dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs121912664
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr17:7670699 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A / C>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.000004 (1/264690, TOPMED)T=0.000012 (3/250846, GnomAD_exome)T=0.000014 (2/140182, GnomAD) (+ 2 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- TP53 : Missense Variant
- Publications
- 15 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 14528 | C=1.00000 | T=0.00000 |
| European | Sub | 9690 | C=1.0000 | T=0.0000 |
| African | Sub | 3324 | C=1.0000 | T=0.0000 |
| African Others | Sub | 114 | C=1.000 | T=0.000 |
| African American | Sub | 3210 | C=1.0000 | T=0.0000 |
| Asian | Sub | 112 | C=1.000 | T=0.000 |
| East Asian | Sub | 86 | C=1.00 | T=0.00 |
| Other Asian | Sub | 26 | C=1.00 | T=0.00 |
| Latin American 1 | Sub | 146 | C=1.000 | T=0.000 |
| Latin American 2 | Sub | 610 | C=1.000 | T=0.000 |
| South Asian | Sub | 98 | C=1.00 | T=0.00 |
| Other | Sub | 548 | C=1.000 | T=0.000 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | C=0.999996 | T=0.000004 |
| gnomAD - Exomes | Global | Study-wide | 250846 | C=0.999988 | T=0.000012 |
| gnomAD - Exomes | European | Sub | 135036 | C=1.000000 | T=0.000000 |
| gnomAD - Exomes | Asian | Sub | 48926 | C=1.00000 | T=0.00000 |
| gnomAD - Exomes | American | Sub | 34544 | C=0.99994 | T=0.00006 |
| gnomAD - Exomes | African | Sub | 16172 | C=1.00000 | T=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10042 | C=1.00000 | T=0.00000 |
| gnomAD - Exomes | Other | Sub | 6126 | C=0.9998 | T=0.0002 |
| gnomAD - Genomes | Global | Study-wide | 140182 | C=0.999986 | T=0.000014 |
| gnomAD - Genomes | European | Sub | 75924 | C=1.00000 | T=0.00000 |
| gnomAD - Genomes | African | Sub | 42022 | C=1.00000 | T=0.00000 |
| gnomAD - Genomes | American | Sub | 13632 | C=0.99985 | T=0.00015 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | C=1.0000 | T=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3130 | C=1.0000 | T=0.0000 |
| gnomAD - Genomes | Other | Sub | 2154 | C=1.0000 | T=0.0000 |
| ExAC | Global | Study-wide | 117390 | C=0.999991 | T=0.000009 |
| ExAC | Europe | Sub | 71488 | C=1.00000 | T=0.00000 |
| ExAC | Asian | Sub | 24274 | C=1.00000 | T=0.00000 |
| ExAC | American | Sub | 11078 | C=0.99991 | T=0.00009 |
| ExAC | African | Sub | 9672 | C=1.0000 | T=0.0000 |
| ExAC | Other | Sub | 878 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Total | Global | 14528 | C=1.00000 | T=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | African | Sub | 3324 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Other | Sub | 548 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=1.00 | T=0.00 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 17 | NC_000017.11:g.7670699C>A |
| GRCh38.p14 chr 17 | NC_000017.11:g.7670699C>G |
| GRCh38.p14 chr 17 | NC_000017.11:g.7670699C>T |
| GRCh37.p13 chr 17 | NC_000017.10:g.7574017C>A |
| GRCh37.p13 chr 17 | NC_000017.10:g.7574017C>G |
| GRCh37.p13 chr 17 | NC_000017.10:g.7574017C>T |
| TP53 RefSeqGene (LRG_321) | NG_017013.2:g.21852G>T |
| TP53 RefSeqGene (LRG_321) | NG_017013.2:g.21852G>C |
| TP53 RefSeqGene (LRG_321) | NG_017013.2:g.21852G>A |
Gene: TP53, tumor protein p53
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TP53 transcript variant 7 | NM_001276699.3:c.*29= | N/A | 3 Prime UTR Variant |
| TP53 transcript variant 4 | NM_001276695.3:c.*29= | N/A | 3 Prime UTR Variant |
| TP53 transcript variant 3 | NM_001276696.3:c.*117= | N/A | 3 Prime UTR Variant |
| TP53 transcript variant 6 | NM_001276698.3:c.*117= | N/A | 3 Prime UTR Variant |
| TP53 transcript variant 3 | NM_001126114.3:c.*117= | N/A | 3 Prime UTR Variant |
| TP53 transcript variant 4 | NM_001126113.3:c.*29= | N/A | 3 Prime UTR Variant |
| TP53 transcript variant 6 | NM_001126116.2:c.*117= | N/A | 3 Prime UTR Variant |
| TP53 transcript variant 7 | NM_001126117.2:c.*29= | N/A | 3 Prime UTR Variant |
| TP53 transcript variant 1 | NM_000546.6:c.1010G>T | R [CGC] > L [CTC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform a | NP_000537.3:p.Arg337Leu | R (Arg) > L (Leu) | Missense Variant |
| TP53 transcript variant 1 | NM_000546.6:c.1010G>C | R [CGC] > P [CCC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform a | NP_000537.3:p.Arg337Pro | R (Arg) > P (Pro) | Missense Variant |
| TP53 transcript variant 1 | NM_000546.6:c.1010G>A | R [CGC] > H [CAC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform a | NP_000537.3:p.Arg337His | R (Arg) > H (His) | Missense Variant |
| TP53 transcript variant 1 | NM_001276760.3:c.893G>T | R [CGC] > L [CTC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001263689.1:p.Arg298Leu | R (Arg) > L (Leu) | Missense Variant |
| TP53 transcript variant 1 | NM_001276760.3:c.893G>C | R [CGC] > P [CCC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001263689.1:p.Arg298Pro | R (Arg) > P (Pro) | Missense Variant |
| TP53 transcript variant 1 | NM_001276760.3:c.893G>A | R [CGC] > H [CAC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001263689.1:p.Arg298His | R (Arg) > H (His) | Missense Variant |
| TP53 transcript variant 2 | NM_001276761.3:c.893G>T | R [CGC] > L [CTC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001263690.1:p.Arg298Leu | R (Arg) > L (Leu) | Missense Variant |
| TP53 transcript variant 2 | NM_001276761.3:c.893G>C | R [CGC] > P [CCC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001263690.1:p.Arg298Pro | R (Arg) > P (Pro) | Missense Variant |
| TP53 transcript variant 2 | NM_001276761.3:c.893G>A | R [CGC] > H [CAC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001263690.1:p.Arg298His | R (Arg) > H (His) | Missense Variant |
| TP53 transcript variant 5 | NM_001276697.3:c.533G>T | R [CGC] > L [CTC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform j | NP_001263626.1:p.Arg178Leu | R (Arg) > L (Leu) | Missense Variant |
| TP53 transcript variant 5 | NM_001276697.3:c.533G>C | R [CGC] > P [CCC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform j | NP_001263626.1:p.Arg178Pro | R (Arg) > P (Pro) | Missense Variant |
| TP53 transcript variant 5 | NM_001276697.3:c.533G>A | R [CGC] > H [CAC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform j | NP_001263626.1:p.Arg178His | R (Arg) > H (His) | Missense Variant |
| TP53 transcript variant 2 | NM_001126112.3:c.1010G>T | R [CGC] > L [CTC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform a | NP_001119584.1:p.Arg337Leu | R (Arg) > L (Leu) | Missense Variant |
| TP53 transcript variant 2 | NM_001126112.3:c.1010G>C | R [CGC] > P [CCC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform a | NP_001119584.1:p.Arg337Pro | R (Arg) > P (Pro) | Missense Variant |
| TP53 transcript variant 2 | NM_001126112.3:c.1010G>A | R [CGC] > H [CAC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform a | NP_001119584.1:p.Arg337His | R (Arg) > H (His) | Missense Variant |
| TP53 transcript variant 8 | NM_001126118.2:c.893G>T | R [CGC] > L [CTC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001119590.1:p.Arg298Leu | R (Arg) > L (Leu) | Missense Variant |
| TP53 transcript variant 8 | NM_001126118.2:c.893G>C | R [CGC] > P [CCC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001119590.1:p.Arg298Pro | R (Arg) > P (Pro) | Missense Variant |
| TP53 transcript variant 8 | NM_001126118.2:c.893G>A | R [CGC] > H [CAC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001119590.1:p.Arg298His | R (Arg) > H (His) | Missense Variant |
| TP53 transcript variant 5 | NM_001126115.2:c.614G>T | R [CGC] > L [CTC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform d | NP_001119587.1:p.Arg205Leu | R (Arg) > L (Leu) | Missense Variant |
| TP53 transcript variant 5 | NM_001126115.2:c.614G>C | R [CGC] > P [CCC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform d | NP_001119587.1:p.Arg205Pro | R (Arg) > P (Pro) | Missense Variant |
| TP53 transcript variant 5 | NM_001126115.2:c.614G>A | R [CGC] > H [CAC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform d | NP_001119587.1:p.Arg205His | R (Arg) > H (His) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: A (allele ID:
152542
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000132259.4 | Hereditary cancer-predisposing syndrome | Likely-Pathogenic |
| RCV000785297.3 | Neoplasm of ovary | Likely-Pathogenic |
| RCV001762321.2 | Familial cancer of breast | Likely-Pathogenic |
Allele: G (allele ID:
176640
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000154527.7 | Li-Fraumeni syndrome | Likely-Pathogenic |
| RCV001187412.2 | Hereditary cancer-predisposing syndrome | Likely-Pathogenic |
Allele: T (allele ID:
27418
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000013178.26 | Adrenocortical carcinoma, pediatric | Pathogenic |
| RCV000128923.8 | Hereditary cancer-predisposing syndrome | Pathogenic |
| RCV000197240.13 | Li-Fraumeni syndrome | Pathogenic-Likely-Pathogenic |
| RCV000413754.2 | Breast neoplasm | Pathogenic |
| RCV000481814.14 | not provided | Pathogenic |
| RCV000576817.5 | Li-Fraumeni syndrome 1 | Pathogenic |
| RCV000989700.2 | Squamous cell carcinoma of the head and neck | Pathogenic |
| RCV001375632.3 | Adrenocortical carcinoma, hereditary | Pathogenic |
| RCV002251901.2 | See cases | Pathogenic |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | A | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 17 | NC_000017.11:g.7670699= | NC_000017.11:g.7670699C>A | NC_000017.11:g.7670699C>G | NC_000017.11:g.7670699C>T |
| GRCh37.p13 chr 17 | NC_000017.10:g.7574017= | NC_000017.10:g.7574017C>A | NC_000017.10:g.7574017C>G | NC_000017.10:g.7574017C>T |
| TP53 RefSeqGene (LRG_321) | NG_017013.2:g.21852= | NG_017013.2:g.21852G>T | NG_017013.2:g.21852G>C | NG_017013.2:g.21852G>A |
| TP53 transcript variant 1 | NM_000546.6:c.1010= | NM_000546.6:c.1010G>T | NM_000546.6:c.1010G>C | NM_000546.6:c.1010G>A |
| TP53 transcript variant 1 | NM_000546.5:c.1010= | NM_000546.5:c.1010G>T | NM_000546.5:c.1010G>C | NM_000546.5:c.1010G>A |
| TP53 transcript variant 3 | NM_001276696.3:c.*117= | NM_001276696.3:c.*117G>T | NM_001276696.3:c.*117G>C | NM_001276696.3:c.*117G>A |
| TP53 transcript variant 3 | NM_001276696.2:c.*117= | NM_001276696.2:c.*117G>T | NM_001276696.2:c.*117G>C | NM_001276696.2:c.*117G>A |
| TP53 transcript variant 3 | NM_001276696.1:c.*117= | NM_001276696.1:c.*117G>T | NM_001276696.1:c.*117G>C | NM_001276696.1:c.*117G>A |
| TP53 transcript variant 3 | NM_001126114.3:c.*117= | NM_001126114.3:c.*117G>T | NM_001126114.3:c.*117G>C | NM_001126114.3:c.*117G>A |
| TP53 transcript variant 3 | NM_001126114.2:c.*117= | NM_001126114.2:c.*117G>T | NM_001126114.2:c.*117G>C | NM_001126114.2:c.*117G>A |
| TP53 transcript variant 4 | NM_001276695.3:c.*29= | NM_001276695.3:c.*29G>T | NM_001276695.3:c.*29G>C | NM_001276695.3:c.*29G>A |
| TP53 transcript variant 4 | NM_001276695.2:c.*29= | NM_001276695.2:c.*29G>T | NM_001276695.2:c.*29G>C | NM_001276695.2:c.*29G>A |
| TP53 transcript variant 4 | NM_001276695.1:c.*29= | NM_001276695.1:c.*29G>T | NM_001276695.1:c.*29G>C | NM_001276695.1:c.*29G>A |
| TP53 transcript variant 4 | NM_001126113.3:c.*29= | NM_001126113.3:c.*29G>T | NM_001126113.3:c.*29G>C | NM_001126113.3:c.*29G>A |
| TP53 transcript variant 4 | NM_001126113.2:c.*29= | NM_001126113.2:c.*29G>T | NM_001126113.2:c.*29G>C | NM_001126113.2:c.*29G>A |
| TP53 transcript variant 1 | NM_001276760.3:c.893= | NM_001276760.3:c.893G>T | NM_001276760.3:c.893G>C | NM_001276760.3:c.893G>A |
| TP53 transcript variant 1 | NM_001276760.2:c.893= | NM_001276760.2:c.893G>T | NM_001276760.2:c.893G>C | NM_001276760.2:c.893G>A |
| TP53 transcript variant 1 | NM_001276760.1:c.893= | NM_001276760.1:c.893G>T | NM_001276760.1:c.893G>C | NM_001276760.1:c.893G>A |
| TP53 transcript variant 2 | NM_001276761.3:c.893= | NM_001276761.3:c.893G>T | NM_001276761.3:c.893G>C | NM_001276761.3:c.893G>A |
| TP53 transcript variant 2 | NM_001276761.2:c.893= | NM_001276761.2:c.893G>T | NM_001276761.2:c.893G>C | NM_001276761.2:c.893G>A |
| TP53 transcript variant 2 | NM_001276761.1:c.893= | NM_001276761.1:c.893G>T | NM_001276761.1:c.893G>C | NM_001276761.1:c.893G>A |
| TP53 transcript variant 2 | NM_001126112.3:c.1010= | NM_001126112.3:c.1010G>T | NM_001126112.3:c.1010G>C | NM_001126112.3:c.1010G>A |
| TP53 transcript variant 2 | NM_001126112.2:c.1010= | NM_001126112.2:c.1010G>T | NM_001126112.2:c.1010G>C | NM_001126112.2:c.1010G>A |
| TP53 transcript variant 6 | NM_001276698.3:c.*117= | NM_001276698.3:c.*117G>T | NM_001276698.3:c.*117G>C | NM_001276698.3:c.*117G>A |
| TP53 transcript variant 6 | NM_001276698.2:c.*117= | NM_001276698.2:c.*117G>T | NM_001276698.2:c.*117G>C | NM_001276698.2:c.*117G>A |
| TP53 transcript variant 6 | NM_001276698.1:c.*117= | NM_001276698.1:c.*117G>T | NM_001276698.1:c.*117G>C | NM_001276698.1:c.*117G>A |
| TP53 transcript variant 7 | NM_001276699.3:c.*29= | NM_001276699.3:c.*29G>T | NM_001276699.3:c.*29G>C | NM_001276699.3:c.*29G>A |
| TP53 transcript variant 7 | NM_001276699.2:c.*29= | NM_001276699.2:c.*29G>T | NM_001276699.2:c.*29G>C | NM_001276699.2:c.*29G>A |
| TP53 transcript variant 7 | NM_001276699.1:c.*29= | NM_001276699.1:c.*29G>T | NM_001276699.1:c.*29G>C | NM_001276699.1:c.*29G>A |
| TP53 transcript variant 5 | NM_001276697.3:c.533= | NM_001276697.3:c.533G>T | NM_001276697.3:c.533G>C | NM_001276697.3:c.533G>A |
| TP53 transcript variant 5 | NM_001276697.2:c.533= | NM_001276697.2:c.533G>T | NM_001276697.2:c.533G>C | NM_001276697.2:c.533G>A |
| TP53 transcript variant 5 | NM_001276697.1:c.533= | NM_001276697.1:c.533G>T | NM_001276697.1:c.533G>C | NM_001276697.1:c.533G>A |
| TP53 transcript variant 8 | NM_001126118.2:c.893= | NM_001126118.2:c.893G>T | NM_001126118.2:c.893G>C | NM_001126118.2:c.893G>A |
| TP53 transcript variant 8 | NM_001126118.1:c.893= | NM_001126118.1:c.893G>T | NM_001126118.1:c.893G>C | NM_001126118.1:c.893G>A |
| TP53 transcript variant 6 | NM_001126116.2:c.*117= | NM_001126116.2:c.*117G>T | NM_001126116.2:c.*117G>C | NM_001126116.2:c.*117G>A |
| TP53 transcript variant 6 | NM_001126116.1:c.*117= | NM_001126116.1:c.*117G>T | NM_001126116.1:c.*117G>C | NM_001126116.1:c.*117G>A |
| TP53 transcript variant 7 | NM_001126117.2:c.*29= | NM_001126117.2:c.*29G>T | NM_001126117.2:c.*29G>C | NM_001126117.2:c.*29G>A |
| TP53 transcript variant 7 | NM_001126117.1:c.*29= | NM_001126117.1:c.*29G>T | NM_001126117.1:c.*29G>C | NM_001126117.1:c.*29G>A |
| TP53 transcript variant 5 | NM_001126115.2:c.614= | NM_001126115.2:c.614G>T | NM_001126115.2:c.614G>C | NM_001126115.2:c.614G>A |
| TP53 transcript variant 5 | NM_001126115.1:c.614= | NM_001126115.1:c.614G>T | NM_001126115.1:c.614G>C | NM_001126115.1:c.614G>A |
| TP53 transcript variant 13 | NM_001407271.1:c.*117= | NM_001407271.1:c.*117G>T | NM_001407271.1:c.*117G>C | NM_001407271.1:c.*117G>A |
| TP53 transcript variant 13 | NM_001407270.1:c.*117= | NM_001407270.1:c.*117G>T | NM_001407270.1:c.*117G>C | NM_001407270.1:c.*117G>A |
| TP53 transcript variant 12 | NM_001407269.1:c.*117= | NM_001407269.1:c.*117G>T | NM_001407269.1:c.*117G>C | NM_001407269.1:c.*117G>A |
| TP53 transcript variant 12 | NM_001407268.1:c.*117= | NM_001407268.1:c.*117G>T | NM_001407268.1:c.*117G>C | NM_001407268.1:c.*117G>A |
| TP53 transcript variant 9 | NM_001407263.1:c.893= | NM_001407263.1:c.893G>T | NM_001407263.1:c.893G>C | NM_001407263.1:c.893G>A |
| TP53 transcript variant 9 | NM_001407262.1:c.1010= | NM_001407262.1:c.1010G>T | NM_001407262.1:c.1010G>C | NM_001407262.1:c.1010G>A |
| TP53 transcript variant 11 | NM_001407267.1:c.893= | NM_001407267.1:c.893G>T | NM_001407267.1:c.893G>C | NM_001407267.1:c.893G>A |
| TP53 transcript variant 11 | NM_001407266.1:c.1010= | NM_001407266.1:c.1010G>T | NM_001407266.1:c.1010G>C | NM_001407266.1:c.1010G>A |
| TP53 transcript variant 10 | NM_001407265.1:c.893= | NM_001407265.1:c.893G>T | NM_001407265.1:c.893G>C | NM_001407265.1:c.893G>A |
| TP53 transcript variant 10 | NM_001407264.1:c.1010= | NM_001407264.1:c.1010G>T | NM_001407264.1:c.1010G>C | NM_001407264.1:c.1010G>A |
| TP53 transcript variant 14 | NR_176326.1:n.1039= | NR_176326.1:n.1039G>T | NR_176326.1:n.1039G>C | NR_176326.1:n.1039G>A |
| cellular tumor antigen p53 isoform a | NP_000537.3:p.Arg337= | NP_000537.3:p.Arg337Leu | NP_000537.3:p.Arg337Pro | NP_000537.3:p.Arg337His |
| cellular tumor antigen p53 isoform g | NP_001263689.1:p.Arg298= | NP_001263689.1:p.Arg298Leu | NP_001263689.1:p.Arg298Pro | NP_001263689.1:p.Arg298His |
| cellular tumor antigen p53 isoform g | NP_001263690.1:p.Arg298= | NP_001263690.1:p.Arg298Leu | NP_001263690.1:p.Arg298Pro | NP_001263690.1:p.Arg298His |
| cellular tumor antigen p53 isoform a | NP_001119584.1:p.Arg337= | NP_001119584.1:p.Arg337Leu | NP_001119584.1:p.Arg337Pro | NP_001119584.1:p.Arg337His |
| cellular tumor antigen p53 isoform j | NP_001263626.1:p.Arg178= | NP_001263626.1:p.Arg178Leu | NP_001263626.1:p.Arg178Pro | NP_001263626.1:p.Arg178His |
| cellular tumor antigen p53 isoform g | NP_001119590.1:p.Arg298= | NP_001119590.1:p.Arg298Leu | NP_001119590.1:p.Arg298Pro | NP_001119590.1:p.Arg298His |
| cellular tumor antigen p53 isoform d | NP_001119587.1:p.Arg205= | NP_001119587.1:p.Arg205Leu | NP_001119587.1:p.Arg205Pro | NP_001119587.1:p.Arg205His |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
13 SubSNP,
5 Frequency,
14 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | OMIM-CURATED-RECORDS | ss275513825 | Nov 22, 2010 (133) |
| 2 | CLINVAR | ss1457621681 | Nov 23, 2014 (142) |
| 3 | CLINVAR | ss1558294601 | Feb 26, 2015 (142) |
| 4 | EVA_EXAC | ss1692579610 | Apr 01, 2015 (144) |
| 5 | GNOMAD | ss2742410113 | Nov 08, 2017 (151) |
| 6 | ILLUMINA | ss3021752276 | Nov 08, 2017 (151) |
| 7 | ILLUMINA | ss3652165091 | Oct 12, 2018 (152) |
| 8 | ILLUMINA | ss3725600016 | Jul 13, 2019 (153) |
| 9 | GNOMAD | ss4307563353 | Apr 27, 2021 (155) |
| 10 | TOPMED | ss5028669782 | Apr 27, 2021 (155) |
| 11 | EVA | ss5316119527 | Oct 17, 2022 (156) |
| 12 | EVA | ss5847787824 | Oct 17, 2022 (156) |
| 13 | EVA | ss5979499441 | Oct 17, 2022 (156) |
| 14 | ExAC | NC_000017.10 - 7574017 | Oct 12, 2018 (152) |
| 15 | gnomAD - Genomes | NC_000017.11 - 7670699 | Apr 27, 2021 (155) |
| 16 | gnomAD - Exomes | NC_000017.10 - 7574017 | Jul 13, 2019 (153) |
| 17 | TopMed | NC_000017.11 - 7670699 | Apr 27, 2021 (155) |
| 18 | ALFA | NC_000017.11 - 7670699 | Apr 27, 2021 (155) |
| 19 | ClinVar | RCV000013178.26 | Oct 17, 2022 (156) |
| 20 | ClinVar | RCV000128923.8 | Oct 17, 2022 (156) |
| 21 | ClinVar | RCV000132259.4 | Oct 17, 2022 (156) |
| 22 | ClinVar | RCV000154527.7 | Oct 17, 2022 (156) |
| 23 | ClinVar | RCV000197240.13 | Oct 17, 2022 (156) |
| 24 | ClinVar | RCV000413754.2 | Oct 17, 2022 (156) |
| 25 | ClinVar | RCV000481814.14 | Oct 17, 2022 (156) |
| 26 | ClinVar | RCV000576817.5 | Oct 17, 2022 (156) |
| 27 | ClinVar | RCV000785297.3 | Oct 17, 2022 (156) |
| 28 | ClinVar | RCV000989700.2 | Oct 17, 2022 (156) |
| 29 | ClinVar | RCV001187412.2 | Oct 17, 2022 (156) |
| 30 | ClinVar | RCV001375632.3 | Oct 17, 2022 (156) |
| 31 | ClinVar | RCV001762321.2 | Oct 17, 2022 (156) |
| 32 | ClinVar | RCV002251901.2 | Oct 17, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss5316119527 | NC_000017.10:7574016:C:A | NC_000017.11:7670698:C:A | |
| RCV000132259.4, RCV000785297.3, RCV001762321.2, ss1457621681 | NC_000017.11:7670698:C:A | NC_000017.11:7670698:C:A | (self) |
| RCV000154527.7, RCV001187412.2, ss1558294601 | NC_000017.11:7670698:C:G | NC_000017.11:7670698:C:G | (self) |
| 3007367, 11708192, ss1692579610, ss2742410113, ss3021752276, ss3652165091, ss5847787824, ss5979499441 | NC_000017.10:7574016:C:T | NC_000017.11:7670698:C:T | (self) |
| RCV000013178.26, RCV000128923.8, RCV000197240.13, RCV000413754.2, RCV000481814.14, RCV000576817.5, RCV000989700.2, RCV001375632.3, RCV002251901.2, 500819187, 244215444, 9940040502, ss275513825, ss3725600016, ss4307563353, ss5028669782 | NC_000017.11:7670698:C:T | NC_000017.11:7670698:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
15
citations for rs121912664
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 10719737 | Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers. | Takahashi M et al. | 2000 | International journal of cancer |
| 11481490 | An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. | Ribeiro RC et al. | 2001 | Proceedings of the National Academy of Sciences of the United States of America |
| 11600572 | An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors. | Latronico AC et al. | 2001 | The Journal of clinical endocrinology and metabolism |
| 11753428 | A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer. | DiGiammarino EL et al. | 2002 | Nature structural biology |
| 12209975 | p53 status correlates with the differential expression of the DNA mismatch repair protein MSH2 in non-small cell lung carcinoma. | Xinarianos G et al. | 2002 | International journal of cancer |
| 12826609 | Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. | Kato S et al. | 2003 | Proceedings of the National Academy of Sciences of the United States of America |
| 15121773 | Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers. | Longui CA et al. | 2004 | Journal of medical genetics |
| 15741269 | Deletion mapping of chromosome 17 in benign and malignant adrenocortical tumors associated with the Arg337His mutation of the p53 tumor suppressor protein. | Pinto EM et al. | 2005 | The Journal of clinical endocrinology and metabolism |
| 16007150 | The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library. | Kawaguchi T et al. | 2005 | Oncogene |
| 16033918 | Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. | Figueiredo BC et al. | 2006 | Journal of medical genetics |
| 16907706 | Geographical variations in TP53 mutational spectrum in ovarian carcinomas. | Dansonka-Mieszkowska A et al. | 2006 | Annals of human genetics |
| 19454241 | Evaluation of transcriptional activity of p53 in individual living mammalian cells. | Imagawa T et al. | 2009 | Analytical biochemistry |
| 23469205 | Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil. | Carraro DM et al. | 2013 | PloS one |
| 24884479 | Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. | Silva FC et al. | 2014 | BMC medical genetics |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.