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Results for "DEPTOR"

Variant Events: 20

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
DEPTOR     11303.p1chr8:
120886151-120886151
CGexonicDe novononsynonymous SNVNM_001283012
NM_022783
c.C65G
c.C65G
p.A22G
p.A22G
15.821.0E-4Satterstrom2020 E
DEPTOR     2-1451-004chr8:
120938356-120938356
TGintronicDe novo--Yuen2017 G
DEPTOR     AU1933302chr8:
120954635-120954635
GAintronicDe novo--Yuen2017 G
DEPTOR     SSC12036chr8:
120886198-120886198
GCexonicDe novononsynonymous SNVNM_001283012
NM_022783
c.G112C
c.G112C
p.E38Q
p.E38Q
16.39-Lim2017 E
DEPTOR     14459.p1chr8:
120886198-120886198
GCexonicDe novononsynonymous SNVNM_001283012
NM_022783
c.G112C
c.G112C
p.E38Q
p.E38Q
16.39-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
DEPTOR     AU3861302chr8:
120919893-120919893
CTintronicDe novo--Yuen2017 G
DEPTOR     1-0914-003chr8:
121051535-121051535
GAintronicDe novo--Yuen2017 G
DEPTOR     2-0244-003chr8:
121103823-121103823
GAintergenicDe novo--Yuen2017 G
DEPTOR     AU071204chr8:
120912067-120912071
TCACATCAintronicDe novo--Yuen2017 G
DEPTOR     1-0593-003chr8:
120982259-120982259
ACintronicDe novo--Yuen2017 G
DEPTOR     AU2458303chr8:
120982954-120982954
GAintronicDe novo--Yuen2017 G
DEPTOR     2-1251-003chr8:
120992906-120992906
TAintronicDe novo--Yuen2017 G
DEPTOR     iHART1259chr8:
120940681-120940686
ATCATCAexonicPaternalframeshift deletionNM_022783c.165_169delp.H55fs-1.648E-5Ruzzo2019 G
DEPTOR     AU4067303chr8:
120985528-120985528
GAintronicDe novo--Yuen2017 G
DEPTOR     1-0345-004chr8:
121081916-121081916
AGintergenicDe novo--Yuen2017 G
DEPTOR     2-0019-004chr8:
121053577-121053577
AGintronicDe novo--Yuen2017 G
DEPTOR     AU3912303chr8:
121111156-121111156
GAintergenicDe novo--Yuen2017 G
DEPTOR     AU2023302chr8:
121104486-121104486
AGintergenicDe novo--Yuen2017 G
DEPTOR     AU012804chr8:
121058178-121058178
AGintronicDe novo--Yuen2017 G
DEPTOR     2-1508-003chr8:
121105064-121105064
TCintergenicDe 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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