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 14:20472366 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM981389 ; PhenCode NPbase_D0064:g.3957C>T (C/T)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 4324, 2010_April_001_039_NP_164050_0008

HGVS names

This variant has 14 HGVS names - Hide

14:g.20472366C>T
ENST00000557229.5:n.189C>T
ENST00000553591.1:c.187C>T
ENSP00000452421.1:p.Arg63Ter
ENST00000556293.5:n.189C>T
ENST00000554065.1:c.-168C>T
ENST00000553418.5:c.70C>T
ENSP00000450663.1:p.Arg24Ter
ENST00000361505.9:c.70C>T
ENSP00000354532.5:p.Arg24Ter
ENST00000554056.5:n.181C>T
LRG_91:g.7984C>T
LRG_91t1:c.70C>T
LRG_91p1:p.Arg24Ter

About this variant

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

Variant displays