Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome X:120442599 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CS050397, CM057189

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_224_LAMP2_309060_0010, 8371

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 7 transcripts and is associated with 3 phenotypes.

Variant displays