Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome X:154766313 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM994539 ; PhenCode DKC1base_D0028:g.4556A>G (A/G)

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.154766313A>G
ENST00000437719.5:c.317A>G
ENSP00000395693.1:p.Ser107Gly
ENST00000620277.4:c.361A>G
ENSP00000478387.1:p.Ser121Gly
ENST00000473552.1:n.414A>G
ENST00000369550.9:c.361A>G
ENSP00000358563.5:p.Ser121Gly
ENST00000452771.5:c.319A>G
ENSP00000407325.1:p.Ser107Gly
ENST00000413910.5:c.361A>G
ENSP00000400542.1:p.Ser121Gly
LRG_55:g.8558A>G
LRG_55t1:c.361A>G
LRG_55p1:p.Ser121Gly

About this variant

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

Variant displays