Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM940114

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 15028, 2009_August_001_035_ARSA_607574_0040

This variant has 12 HGVS names - click the plus to show

About this variant

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

Variant displays