Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 11:17453151 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM072831

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Hide

11:g.17453151C>T
ENST00000527905.5:c.1144G>A
ENSP00000431653.1:p.Glu382Lys
ENST00000389817.7:c.1144G>A
ENSP00000374467.3:p.Glu382Lys
ENST00000532728.5:n.1175G>A
ENST00000302539.8:c.1144G>A
ENSP00000303960.4:p.Glu382Lys

About this variant

This variant overlaps 4 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays