Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
A/C|Ancestral: A|Ambiguity code: M
Location

Chromosome 19:41970533 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM042306

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5379, NM_152296.3:c.2273T>G

HGVS names

This variant has 11 HGVS names - Show

About this variant

This variant overlaps 5 transcripts, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays