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 22:50625614 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM980120

Most severe consequence
Evidence status

Clinical significance

Synonyms

Uniprot VAR_007285

This variation has 13 HGVS names - click the plus to show

About this variant

This variant overlaps 8 transcripts, is associated with 1 phenotype and is mentioned in 2 citations.

Variation displays