ClinVar

NM_001142459.2(ASB10):c.194G>A (p.Gly65Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 151186937 (on Assembly GRCh38)
• Chr7: 150884024 (on Assembly GRCh37)

Preferred name:

NM_001142459.2(ASB10):c.194G>A (p.Gly65Glu)

HGVS:

• NC_000007.14:g.151186937C>T
• NG_017016.1:g.5896G>A
• NM_001142459.2:c.194G>AMANE SELECT
• NM_001142460.1:c.194G>A
• NM_080871.4:c.272-278G>A
• NP_001135931.2:p.Gly65Glu
• NP_001135932.2:p.Gly65Glu
• NC_000007.13:g.150884024C>T
• NM_001142459.1:c.194G>A
• Q8WXI3:p.Gly65Glu

This HGVS expression did not pass validation

Protein change:

G65E

Links:

UniProtKB: Q8WXI3#VAR_069868; dbSNP: rs104886491

NCBI 1000 Genomes Browser:

rs104886491

Molecular consequence:

• NM_080871.4:c.272-278G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001142459.2:c.194G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142460.1:c.194G>A - missense variant - [Sequence Ontology: SO:0001583]