Original source

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

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

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

Co-located variants

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

Synonyms

This variant has 7 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