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 10:70598417 (forward strand)|View in location tab

Co-located variants

COSMIC COSM685468 ; HGMD-PUBLIC CM030491 ; PhenCode PRF1base_D0067:g.5759C>T (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4595, 2010_April_001_086_PRF1_170280_0010

HGVS names

This variant has 8 HGVS names - Hide

10:g.70598417G>A
ENST00000373209.2:c.1304C>T
ENSP00000362305.1:p.Thr435Met
ENST00000441259.1:c.1304C>T
ENSP00000398568.1:p.Thr435Met
LRG_94:g.9359C>T
LRG_94t1:c.1304C>T
LRG_94p1:p.Thr435Met

About this variant

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

Variant displays