Original source

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

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

Chromosome 19:55154047 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM030287 ; PhenCode FHC0394 (T/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 29 transcripts and is associated with 2 phenotypes.

Variant displays