Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome 11:47441716 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3769301 ; HGMD-PUBLIC CM035482

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 10265, 2010_April_001_285_RAPSN_601592_0005

HGVS names

This variant has 16 HGVS names - Hide

Variant allele A
11:g.47441716G>A
ENST00000352508.7:c.789+107C>T
ENST00000298854.6:c.807C>T
ENST00000298854.6:c.807C>T(p.=)
ENST00000529341.1:c.789+107C>T
ENST00000524487.5:c.648C>T
ENST00000524487.5:c.648C>T(p.=)
ENST00000528356.1:n.16C>T

Variant allele T
11:g.47441716G>T
ENST00000352508.7:c.789+107C>A
ENST00000298854.6:c.807C>A
ENSP00000298854.2:p.Tyr269Ter
ENST00000529341.1:c.789+107C>A
ENST00000524487.5:c.648C>A
ENSP00000435551.2:p.Tyr216Ter
ENST00000528356.1:n.16C>A

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays