Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome X:107639301 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM073283 ; PhenCode IPNMDB_937 (A/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 8431, NM_002764.3:c.129A>C

This variant has 9 HGVS names - click the plus to show

X:g.107639301A>C
ENST00000372435.8:c.129A>C
ENSP00000361512.4:p.Glu43Asp
ENST00000372419.3:c.129A>C
ENSP00000361496.3:p.Glu43Asp
ENST00000372428.8:c.-82-5876A>C
LRG_264:g.15878A>C
LRG_264t1:c.129A>C
LRG_264p1:p.Glu43Asp

About this variant

This variant overlaps 5 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays