Original source

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

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

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

Co-located variant

HGMD-PUBLIC CM043271

Most severe consequence
 
Missense variant
Evidence status

Synonyms

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