Original source

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

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

Chromosome 10:70598435 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM992956 ; PhenCode PRF1base_D0067:g.5741G>A (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 4590, 2010_April_001_081_PRF1_170280_0005

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays