Original source

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

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

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

Co-located

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 15 HGVS names - click the plus to 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