Original source

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

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

Chromosome 19:1223126 (forward strand)|View in location tab

Co-located variants

COSMIC COSM21360 ; HGMD-PUBLIC CM041082

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 20 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 5 phenotypes.

Variant displays