Original source

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

Alleles
A/G|Ancestral: G|Ambiguity code: R|MAF: 0.26 (A)
Location

Chromosome 16:88643420 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

16:g.88643420A>G
ENST00000261623.7:c.521T>C
ENSP00000261623.3:p.Val174Ala
LRG_52:g.12630T>C
LRG_52t1:c.521T>C
LRG_52p1:p.Val174Ala

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 13 transcripts, has 2570 sample genotypes, is associated with 1 phenotype and is mentioned in 2 citations.

Variant displays