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

Co-located variant

HGMD-PUBLIC CM002370

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, is associated with 6 phenotypes and is mentioned in 2 citations.

Variant displays