Original source

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

A/C|Ancestral: A|Ambiguity code: M

Chromosome 10:70599173 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM992950 ; PhenCode PRF1base_D0067:g.5003T>G (A/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 2010_April_001_084_PRF1_170280_0008, 4593

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