Original source

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

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

Chromosome 10:70598599 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM992955 ; PhenCode PRF1base_D0067:g.5577G>A (C/T)

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 4587, 2010_April_001_078_PRF1_170280_0002

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 3 transcripts and is associated with 3 phenotypes.

Variant displays