ClinVar

NM_001142459.2(ASB10):c.263A>T (p.Asp88Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 151186868 (on Assembly GRCh38)
• Chr7: 150883955 (on Assembly GRCh37)

Preferred name:

NM_001142459.2(ASB10):c.263A>T (p.Asp88Val)

HGVS:

• NC_000007.14:g.151186868T>A
• NG_017016.1:g.5965A>T
• NM_001142459.2:c.263A>TMANE SELECT
• NM_001142460.1:c.263A>T
• NM_080871.4:c.272-209A>T
• NP_001135931.2:p.Asp88Val
• NP_001135932.2:p.Asp88Val
• NC_000007.13:g.150883955T>A
• NM_001142459.1:c.263A>T
• Q8WXI3:p.Asp88Val

This HGVS expression did not pass validation

Protein change:

D88V

Links:

UniProtKB: Q8WXI3#VAR_069871; dbSNP: rs151344617

NCBI 1000 Genomes Browser:

rs151344617

Molecular consequence:

• NM_080871.4:c.272-209A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001142459.2:c.263A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142460.1:c.263A>T - missense variant - [Sequence Ontology: SO:0001583]