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 11:47441675 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM064189

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_286_RAPSN_601592_0007, 10267

HGVS names

This variant has 8 HGVS names - Hide

11:g.47441675A>G
ENST00000352508.7:c.789+148T>C
ENST00000298854.6:c.848T>C
ENSP00000298854.2:p.Leu283Pro
ENST00000529341.1:c.789+148T>C
ENST00000524487.5:c.689T>C
ENSP00000435551.2:p.Leu230Pro
ENST00000528356.1:n.57T>C

About this variant

This variant overlaps 5 transcripts and is associated with 3 phenotypes.

Variant displays