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 - Show

About this variant

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

Variant displays