Original source

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

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

Chromosome 5:132384281 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM991136

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

5:g.132384281A>G
ENST00000245407.7:c.632A>G
ENSP00000245407.3:p.Tyr211Cys
ENST00000437841.6:c.394-1047A>G
ENST00000435065.6:c.704A>G
ENSP00000402760.2:p.Tyr235Cys
ENST00000461013.5:n.8054A>G
ENST00000415928.5:c.401A>G
ENSP00000388838.1:p.Tyr134Cys

About this variant

This variant overlaps 9 transcripts and is associated with 3 phenotypes.

Variant displays