Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.25 (A)
Location

Chromosome 15:73927241 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM074330

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 14 HGVS names - Hide

15:g.73927241G>A
ENST00000564963.1:n.42+413C>T
ENST00000565756.5:n.183+536C>T
ENST00000562965.1:n.184+536C>T
ENST00000566011.5:c.458G>A
ENSP00000457827.1:p.Gly153Asp
ENST00000564194.5:n.184+824C>T
ENST00000565416.1:n.164+536C>T
ENST00000568087.5:n.166+536C>T
ENST00000566675.5:n.139+824C>T
ENST00000261921.7:c.458G>A
ENSP00000261921.7:p.Gly153Asp
ENST00000567257.5:n.133+413C>T
ENST00000562739.5:n.42+413C>T

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 14 transcripts, 1 regulatory feature, has 3389 sample genotypes, is associated with 3 phenotypes and is mentioned in 76 citations.

Variant displays