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Results for "PRAME"

Variant Events: 4

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
PRAME     AU158Achr22:
22892470-22892470
TCexonicDe novononsynonymous SNVNM_001291719
NM_001291715
NM_001291716
NM_001291717
NM_206953
NM_006115
NM_206954
NM_206955
NM_206956
c.A583G
c.A631G
c.A631G
c.A583G
c.A631G
c.A631G
c.A631G
c.A631G
c.A631G
p.K195E
p.K211E
p.K211E
p.K195E
p.K211E
p.K211E
p.K211E
p.K211E
p.K211E
13.86-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PRAME     AU050403chr22:
22895330-22895330
TGintronicDe novo--Yuen2017 G
PRAME     74-0752chr22:
22893497-22893497
GCexonicInheritednonsynonymous SNVNM_001291715
NM_001291716
NM_206953
NM_006115
NM_206954
NM_206955
NM_206956
c.C36G
c.C36G
c.C36G
c.C36G
c.C36G
c.C36G
c.C36G
p.S12R
p.S12R
p.S12R
p.S12R
p.S12R
p.S12R
p.S12R
6.2662.0E-4Patowary2019 E
PRAME     AU063005chr22:
22893946-22893946
GAintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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