ClinVar

NM_000546.6(TP53):c.205G>A (p.Ala69Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7676164 (on Assembly GRCh38)
• Chr17: 7579482 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.205G>A (p.Ala69Thr)

HGVS:

• NC_000017.11:g.7676164C>T
• NG_017013.2:g.16387G>A
• NM_000546.6:c.205G>AMANE SELECT
• NM_001126112.3:c.205G>A
• NM_001126113.3:c.205G>A
• NM_001126114.3:c.205G>A
• NM_001126118.2:c.88G>A
• NM_001276695.3:c.88G>A
• NM_001276696.3:c.88G>A
• NM_001276760.3:c.88G>A
• NM_001276761.3:c.88G>A
• NP_000537.3:p.Ala69Thr
• NP_000537.3:p.Ala69Thr
• NP_001119584.1:p.Ala69Thr
• NP_001119585.1:p.Ala69Thr
• NP_001119586.1:p.Ala69Thr
• NP_001119590.1:p.Ala30Thr
• NP_001263624.1:p.Ala30Thr
• NP_001263625.1:p.Ala30Thr
• NP_001263689.1:p.Ala30Thr
• NP_001263690.1:p.Ala30Thr
• LRG_321t1:c.205G>A
• LRG_321:g.16387G>A
• LRG_321p1:p.Ala69Thr
• NC_000017.10:g.7579482C>T
• NM_000546.4:c.205G>A
• NM_000546.5:c.205G>A

This HGVS expression did not pass validation

Protein change:

A30T

Links:

dbSNP: rs1567556618

NCBI 1000 Genomes Browser:

rs1567556618

Molecular consequence:

• NM_000546.6:c.205G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126112.3:c.205G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126113.3:c.205G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126114.3:c.205G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126118.2:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276695.3:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276696.3:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276760.3:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276761.3:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]