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:120442599 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS050397, CM057189

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_224_LAMP2_309060_0010, 8371

This variation has 16 HGVS names - click the plus to show

About this variant

This variant overlaps 7 transcripts and is associated with 1 phenotype.

Variation displays