Original source

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

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

Chromosome 11:6616056 (forward strand) | View in location tab


with HGMD-PUBLIC CM970327

Most severe consequence
Missense variant
Evidence status


This variant has 2 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 23 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays