ClinVar

NM_001142459.2(ASB10):c.515C>T (p.Ala172Val)

Gene:

ASB10:ankyrin repeat and SOCS box containing 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 151186461 (on Assembly GRCh38)
• Chr7: 150883548 (on Assembly GRCh37)

Preferred name:

NM_001142459.2(ASB10):c.515C>T (p.Ala172Val)

HGVS:

• NC_000007.14:g.151186461G>A
• NG_017016.1:g.6372C>T
• NM_001142459.2:c.515C>TMANE SELECT
• NM_001142460.1:c.515C>T
• NM_080871.4:c.470C>T
• NP_001135931.2:p.Ala172Val
• NP_001135932.2:p.Ala172Val
• NP_543147.2:p.Ala157Val
• NC_000007.13:g.150883548G>A
• NM_080871.3:c.470C>T

This HGVS expression did not pass validation

Protein change:

A157V

Links:

dbSNP: rs151344604

NCBI 1000 Genomes Browser:

rs151344604

Molecular consequence:

• NM_001142459.2:c.515C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142460.1:c.515C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080871.4:c.470C>T - missense variant - [Sequence Ontology: SO:0001583]