Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.01 (T)
Location

Chromosome 5:1254479 (forward strand)|View in location tab

Co-located variants

COSMIC COSM5019566, COSM5019567 ; HGMD-PUBLIC CM113235

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, has 2591 sample genotypes, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays