Original source

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

C/T|Ancestral: C|Ambiguity code: Y

Chromosome 11:47339757 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM981326 ; PhenCode FHC0045 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


Uniprot VAR_003918

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 5 transcripts, has 2 sample genotypes and is associated with 3 phenotypes.

Variant displays