ClinVar

NM_001142459.2(ASB10):c.986C>T (p.Thr329Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 151181057 (on Assembly GRCh38)
• Chr7: 150878144 (on Assembly GRCh37)

Preferred name:

NM_001142459.2(ASB10):c.986C>T (p.Thr329Met)

HGVS:

• NC_000007.14:g.151181057G>A
• NG_017016.1:g.11776C>T
• NM_001142459.2:c.986C>TMANE SELECT
• NM_001142460.1:c.986C>T
• NM_080871.4:c.941C>T
• NP_001135931.2:p.Thr329Met
• NP_001135932.2:p.Thr329Met
• NP_543147.2:p.Thr314Met
• NC_000007.13:g.150878144G>A
• NM_080871.3:c.941C>T

This HGVS expression did not pass validation

Protein change:

T314M

Links:

dbSNP: rs104886481

NCBI 1000 Genomes Browser:

rs104886481

Molecular consequence:

• NM_001142459.2:c.986C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142460.1:c.986C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080871.4:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]