Original source

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

Alleles
A/G|Ancestral: G|Ambiguity code: R|MAF: 0.37 (G)
Location

Chromosome 14:23392602 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 8 HGVS names - Hide

14:g.23392602A>G
ENST00000405093.7:c.3302T>C
ENSP00000386041.3:p.Val1101Ala
ENST00000356287.3:c.3302T>C
ENSP00000348634.3:p.Val1101Ala
LRG_389:g.20676T>C
LRG_389t1:c.3302T>C
LRG_389p1:p.Val1101Ala

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 4 transcripts, has 4075 sample genotypes, is associated with 3 phenotypes and is mentioned in 10 citations.

Variant displays