Original source

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

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

Chromosome X:120449006 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM043512

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_223_LAMP2_309060_0009, 8370

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays