Original source

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

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

Chromosome X:154765472 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM023365 ; PhenCode DKC1base_D0028:g.3715T>C (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 15 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 14 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays