Original source

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

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

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

Co-located

with HGMD-PUBLIC CM981886

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 9 HGVS names - click the plus to show

11:g.17395659G>A
ENST00000389817.6:c.4258C>T
ENSP00000374467.3:p.Arg1420Cys
ENST00000526037.4:n.122C>T
ENST00000525022.1:n.257C>T
ENST00000531642.4:c.94C>T
ENST00000526168.4:c.67-21C>T
ENST00000302539.7:c.4261C>T
ENSP00000303960.4:p.Arg1421Cys

About this variant

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

Variation displays