Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.09 (A)
Location

Chromosome 16:31265490 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM080418

Most severe consequence
 
Missense variant
Evidence status

This variant has 2 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

16:g.31265490G>A
ENST00000287497.12:c.230G>A
ENSP00000287497.8:p.Arg77His
ENST00000544665.7:c.230G>A
ENSP00000441691.2:p.Arg77His

This variant has assays on 7 chips - click the plus to show

About this variant

This variant overlaps 2 transcripts, 2 regulatory features, has 2541 sample genotypes and is mentioned in 40 citations.

Variant displays