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
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 15 HGVS names - click the plus to show

X:g.154765472T>C
ENST00000437719.4:c.69T>C
ENSP00000395693.1:p.Ile24Thr
ENST00000620277.3:c.113T>C
ENSP00000478387.1:p.Ile38Thr
ENST00000473552.1:n.166T>C
ENST00000369550.8:c.113T>C
ENSP00000358563.5:p.Ile38Thr
ENST00000452771.4:c.71T>C
ENSP00000407325.1:p.Ile24Thr
ENST00000413910.4:c.113T>C
ENSP00000400542.1:p.Ile38Thr
LRG_55:g.7717T>C
LRG_55t1:c.113T>C
LRG_55p1:p.Ile38Thr

Genotyping chips

This variation 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.

Variation displays