Original source

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

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

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


with 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