Original source

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

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

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


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 - Show

HGVS names

This variant has 13 HGVS names - Show

About this variant

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

Variant displays