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 22:50625213 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM940114

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 15028, 2009_August_001_035_ARSA_607574_0040

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 8 transcripts and is associated with 2 phenotypes.

Variant displays