Original source

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

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

Chromosome 10:70598885 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM992953 ; PhenCode PRF1base_D0067:g.5291G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4592, 2010_April_001_083_PRF1_170280_0007

HGVS names

This variant has 8 HGVS names - Hide

10:g.70598885C>T
ENST00000373209.2:c.836G>A
ENSP00000362305.1:p.Cys279Tyr
ENST00000441259.1:c.836G>A
ENSP00000398568.1:p.Cys279Tyr
LRG_94:g.8891G>A
LRG_94t1:c.836G>A
LRG_94p1:p.Cys279Tyr

About this variant

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

Variant displays