ClinVar

NM_000546.6(TP53):c.139C>A (p.Pro47Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7676230 (on Assembly GRCh38)
• Chr17: 7579548 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.139C>A (p.Pro47Thr)

HGVS:

• NC_000017.11:g.7676230G>T
• NG_017013.2:g.16321C>A
• NM_000546.6:c.139C>AMANE SELECT
• NM_001126112.3:c.139C>A
• NM_001126113.3:c.139C>A
• NM_001126114.3:c.139C>A
• NM_001126118.2:c.22C>A
• NM_001276695.3:c.22C>A
• NM_001276696.3:c.22C>A
• NM_001276760.3:c.22C>A
• NM_001276761.3:c.22C>A
• NP_000537.3:p.Pro47Thr
• NP_000537.3:p.Pro47Thr
• NP_001119584.1:p.Pro47Thr
• NP_001119585.1:p.Pro47Thr
• NP_001119586.1:p.Pro47Thr
• NP_001119590.1:p.Pro8Thr
• NP_001263624.1:p.Pro8Thr
• NP_001263625.1:p.Pro8Thr
• NP_001263689.1:p.Pro8Thr
• NP_001263690.1:p.Pro8Thr
• LRG_321t1:c.139C>A
• LRG_321:g.16321C>A
• LRG_321p1:p.Pro47Thr
• NC_000017.10:g.7579548G>T
• NM_000546.4:c.139C>A
• NM_000546.5:c.139C>A

This HGVS expression did not pass validation

Protein change:

P47T

Links:

dbSNP: rs1800371

NCBI 1000 Genomes Browser:

rs1800371

Molecular consequence:

• NM_000546.6:c.139C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126112.3:c.139C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126113.3:c.139C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126114.3:c.139C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126118.2:c.22C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276695.3:c.22C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276696.3:c.22C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276760.3:c.22C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276761.3:c.22C>A - missense variant - [Sequence Ontology: SO:0001583]