Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome X:154773152 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990482 ; PhenCode DKC1base_D0028:g.11395C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 13 HGVS names - click the plus to show

X:g.154773152C>T
ENST00000481062.1:n.9C>T
ENST00000412124.5:c.*87C>T
ENST00000475966.1:n.547C>T
ENST00000620277.4:c.1058C>T
ENSP00000478387.1:p.Ala353Val
ENST00000369550.9:c.1058C>T
ENSP00000358563.5:p.Ala353Val
ENST00000426673.5:c.418C>T
ENSP00000407253.2:p.Ala140Val
LRG_55:g.15397C>T
LRG_55t1:c.1058C>T
LRG_55p1:p.Ala353Val

About this variant

This variant overlaps 15 transcripts, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays