Original source

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

T/C/G | Ancestral: T | Ambiguity code: B

Chromosome 11:5225659 (forward strand) | View in location tab


with HGMD-PUBLIC CM930382, CM950620 ; PhenCode HbVar.524 (T/C), HbVar.960 (T/C), HbVar.959 (T/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature, has 2 sample genotypes, is associated with 5 phenotypes and is mentioned in 2 citations.

Variant displays