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:107640993 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM073281

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 8434, NM_002764.3:c.398A>C

This variant has 10 HGVS names - click the plus to show

X:g.107640993A>C
ENST00000372418.2:c.106-1373A>C
ENST00000372419.3:c.398A>C
ENSP00000361496.3:p.Gln133Pro
ENST00000372435.8:c.398A>C
ENSP00000361512.4:p.Gln133Pro
ENST00000372428.8:c.-82-4184A>C
LRG_264:g.17570A>C
LRG_264t1:c.398A>C
LRG_264p1:p.Gln133Pro

About this variant

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

Variant displays