Original source

PhenCode is a collaborative project to better understand the relationship between genotype and phenotype in humans (release 04/2014)|View in PhenCode

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

Chromosome 11:47348424 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM981322 ; dbSNP rs397516074 (C/T)

Most severe consequence
 
Missense variant
HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 5 transcripts.

Variant displays