Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 19:41985082 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM042304

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5378, NM_152296.3:c.829G>A

HGVS names

This variant has 14 HGVS names - Show

About this variant

This variant overlaps 9 transcripts, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays