Original source

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

T/C/G|Ancestral: T|Ambiguity code: B

Chromosome 19:55151851 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM971500 ; PhenCode FHC0423 (T/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


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 3 phenotypes.

Variant displays