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 11:47447853 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM064188

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_287_RAPSN_601592_0009, 10269

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

11:g.47447853G>A
ENST00000352508.7:c.490C>T
ENSP00000298853.3:p.Arg164Cys
ENST00000298854.6:c.490C>T
ENSP00000298854.2:p.Arg164Cys
ENST00000529341.1:c.490C>T
ENSP00000431732.1:p.Arg164Cys
ENST00000524487.5:c.490C>T
ENSP00000435551.2:p.Arg164Cys

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays