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 11:17395659 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981886

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

11:g.17395659G>A
ENST00000389817.7:c.4258C>T
ENSP00000374467.3:p.Arg1420Cys
ENST00000526037.5:n.122C>T
ENST00000525022.1:n.257C>T
ENST00000531642.5:c.94C>T
ENST00000531642.5:c.94C>T(p.=)
ENST00000526168.5:c.67-21C>T
ENST00000302539.8:c.4261C>T
ENSP00000303960.4:p.Arg1421Cys

About this variant

This variant overlaps 11 transcripts and is associated with 3 phenotypes.

Variant displays