Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 11:17387491 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM040763, CM109650

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

11:g.17387491G>A
ENST00000526912.1:c.340C>T
ENSP00000432729.1:p.Arg114Cys
ENST00000528731.1:c.340C>T
ENSP00000434755.1:p.Arg114Cys
ENST00000339994.4:c.601C>T
ENSP00000345708.4:p.Arg201Cys

About this variant

This variant overlaps 6 transcripts, is associated with 4 phenotypes and is mentioned in 5 citations.

Variant displays