Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 19:55151881 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM020190

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 20 HGVS names - Show

About this variant

This variant overlaps 48 transcripts and is associated with 6 phenotypes.

Variant displays