Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 10:70600713 (forward strand)|View in location tab

Co-located variants

COSMIC COSM386287 ; HGMD-PUBLIC CM992949 ; PhenCode PRF1base_D0067:g.3463C>T (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_079_PRF1_170280_0003, 4588

HGVS names

This variant has 8 HGVS names - Hide

10:g.70600713G>A
ENST00000373209.2:c.190C>T
ENSP00000362305.1:p.Gln64Ter
ENST00000441259.1:c.190C>T
ENSP00000398568.1:p.Gln64Ter
LRG_94:g.7063C>T
LRG_94t1:c.190C>T
LRG_94p1:p.Gln64Ter

About this variant

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

Variant displays