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:154765505 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM014178 ; PhenCode DKC1base_D0028:g.3748C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

X:g.154765505C>T
ENST00000437719.5:c.102C>T
ENSP00000395693.1:p.Thr35Met
ENST00000620277.4:c.146C>T
ENSP00000478387.1:p.Thr49Met
ENST00000473552.1:n.199C>T
ENST00000369550.9:c.146C>T
ENSP00000358563.5:p.Thr49Met
ENST00000452771.5:c.104C>T
ENSP00000407325.1:p.Thr35Met
ENST00000413910.5:c.146C>T
ENSP00000400542.1:p.Thr49Met
LRG_55:g.7750C>T
LRG_55t1:c.146C>T
LRG_55p1:p.Thr49Met

About this variant

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

Variant displays