Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 4587, 2010_April_001_078_PRF1_170280_0002

This variant has 8 HGVS names - click the plus to show

About this variant

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

Variant displays