Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 11:17387595 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM056351, CM061828

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 14 HGVS names - Hide

Variant allele A
11:g.17387595C>A
ENST00000526912.1:c.236G>T
ENSP00000432729.1:p.Cys79Phe
ENST00000528731.1:c.236G>T
ENSP00000434755.1:p.Cys79Phe
ENST00000339994.4:c.497G>T
ENSP00000345708.4:p.Cys166Phe

Variant allele T
11:g.17387595C>T
ENST00000526912.1:c.236G>A
ENSP00000432729.1:p.Cys79Tyr
ENST00000528731.1:c.236G>A
ENSP00000434755.1:p.Cys79Tyr
ENST00000339994.4:c.497G>A
ENSP00000345708.4:p.Cys166Tyr

About this variant

This variant overlaps 12 transcripts, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays