Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

C/A | Ancestral: C | Ambiguity code: M | MAF: < 0.01 (A)

Chromosome 1:197427831 (forward strand) | View in location tab


with HGMD-PUBLIC CM043271

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_022960

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 7 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays