Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R|MAF: 0.34 (A)
Location

Chromosome 16:88646828 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM983302

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 11 synonyms - Show

HGVS names

This variant has 17 HGVS names - Hide

16:g.88646828A>G
ENST00000563526.5:n.189T>C
ENST00000567174.5:c.214T>C
ENSP00000454951.1:p.Tyr72His
ENST00000568278.1:c.214T>C
ENSP00000455506.1:p.Tyr72His
ENST00000569359.5:c.214T>C
ENSP00000456079.1:p.Tyr72His
ENST00000566229.1:c.203T>C
ENSP00000457060.1:p.Val68Ala
ENST00000261623.7:c.214T>C
ENSP00000261623.3:p.Tyr72His
ENST00000562209.1:n.494T>C
ENST00000566534.5:n.236T>C
LRG_52:g.9222T>C
LRG_52t1:c.214T>C
LRG_52p1:p.Tyr72His

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 11 transcripts, has 4097 sample genotypes, is associated with 2 phenotypes and is mentioned in 26 citations.

Variant displays