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 21:36461395 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM051892

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13321, 2009_August_001_005_CLDN14_605608_0003

HGVS names

This variant has 13 HGVS names - Hide

21:g.36461395C>T
ENST00000342108.2:c.301G>A
ENSP00000339292.2:p.Gly101Arg
ENST00000399136.5:c.301G>A
ENSP00000382088.1:p.Gly101Arg
ENST00000428667.1:n.277+15388C>T
ENST00000399135.5:c.301G>A
ENSP00000382087.1:p.Gly101Arg
ENST00000399139.5:c.301G>A
ENSP00000382092.1:p.Gly101Arg
ENST00000429588.1:n.54-18836C>T
ENST00000399137.5:c.301G>A
ENSP00000382090.1:p.Gly101Arg

About this variant

This variant overlaps 8 transcripts and is associated with 2 phenotypes.

Variant displays