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 22:36305985 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002370

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4235, NM_002473.4:c.2104C>T

This variant has 3 HGVS names - click the plus to show

About this variant

This variant overlaps 3 transcripts, is associated with 6 phenotypes and is mentioned in 2 citations.

Variant displays