ClinVar

NM_000546.6(TP53):c.15G>A (p.Gln5=)

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7676580 (on Assembly GRCh38)
• Chr17: 7579898 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.15G>A (p.Gln5=)

HGVS:

• NC_000017.11:g.7676580C>T
• NG_017013.2:g.15971G>A
• NM_000546.6:c.15G>AMANE SELECT
• NM_001126112.3:c.15G>A
• NM_001126113.3:c.15G>A
• NM_001126114.3:c.15G>A
• NM_001126118.2:c.-220G>A
• NM_001276695.3:c.-103G>A
• NM_001276696.3:c.-103G>A
• NM_001276760.3:c.-103G>A
• NM_001276761.3:c.-103G>A
• NP_000537.3:p.Gln5=
• NP_001119584.1:p.Gln5=
• NP_001119585.1:p.Gln5=
• NP_001119586.1:p.Gln5=
• LRG_321:g.15971G>A
• NC_000017.10:g.7579898C>T
• NM_000546.4:c.15G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2151047977

NCBI 1000 Genomes Browser:

rs2151047977

Molecular consequence:

• NM_001126118.2:c.-220G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276695.3:c.-103G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276696.3:c.-103G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276760.3:c.-103G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276761.3:c.-103G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000546.6:c.15G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126112.3:c.15G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126113.3:c.15G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126114.3:c.15G>A - synonymous variant - [Sequence Ontology: SO:0001819]