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 11:47448924 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM020757

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10262, 2010_April_001_284_RAPSN_601592_0002

HGVS names

This variant has 9 HGVS names - Show

About this variant

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

Variant displays