Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M|MAF: 0.25 (A)
Location

Chromosome 4:41257616 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM994452

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 14 transcripts, 1 regulatory feature, has 2507 sample genotypes, is associated with 2 phenotypes and is mentioned in 10 citations.

Variant displays