Original source

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

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

Chromosome 8:19954333 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM096356, CM930484

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16488

HGVS names

This variant has 3 HGVS names - Show

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays