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Results for "DIAPH3"

Variant Events: 24

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
DIAPH3     1-0593-003chr13:
60354961-60354961
AGintronicDe novo--Yuen2017 G
DIAPH3     2-0142-004chr13:
60436103-60436103
AGintronicDe novo--Yuen2017 G
DIAPH3     1-0625-003chr13:
60656452-60656452
ATintronicDe novo--Yuen2017 G
DIAPH3     2-1343-003chr13:
60778430-60778430
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
DIAPH3     1-0547-003chr13:
60537979-60537979
ATintronicDe novo--Yuen2017 G
DIAPH3     2-1738-003chr13:
60468374-60468374
TCintronicDe novo--Yuen2017 G
DIAPH3     5-0014-003chr13:
60360762-60360762
AGintronicDe novo--Yuen2017 G
DIAPH3     2-1361-003chr13:
60483701-60483701
CTintronicDe novo--Yuen2017 G
DIAPH3     2-1518-003chr13:
60559273-60559273
TGintronicDe novo--Yuen2017 G
DIAPH3     iHART2253chr13:
60385029-60385029
CCTexonicUnknownframeshift insertionNM_030932
NM_001258367
NM_001258368
NM_001258366
NM_001042517
NM_001258369
c.2266dupA
c.2917dupA
c.2845dupA
c.3022dupA
c.3055dupA
c.3055dupA
p.R756fs
p.R973fs
p.R949fs
p.R1008fs
p.R1019fs
p.R1019fs
-8.552E-5Ruzzo2019 G
DIAPH3     13393.p1chr13:
60565771-60565771
TCintronicDe novo--Turner2016 G
DIAPH3     AU050604chr13:
60715212-60715212
GCintronicDe novo--Yuen2017 G
DIAPH3     iHART2255chr13:
60385029-60385029
CCTexonicUnknownframeshift insertionNM_030932
NM_001258367
NM_001258368
NM_001258366
NM_001042517
NM_001258369
c.2266dupA
c.2917dupA
c.2845dupA
c.3022dupA
c.3055dupA
c.3055dupA
p.R756fs
p.R973fs
p.R949fs
p.R1008fs
p.R1019fs
p.R1019fs
-8.552E-5Ruzzo2019 G
DIAPH3     AU3637301chr13:
60777966-60777966
TCintergenicDe novo--Yuen2017 G
DIAPH3     12536.p1chr13:
60545105-60545105
GAexonicMosaic Pat.nonsynonymous SNVNM_001258370
NM_030932
NM_001258367
NM_001258368
NM_001258366
NM_001042517
NM_001258369
c.C1051T
c.C1051T
c.C1702T
c.C1630T
c.C1807T
c.C1840T
c.C1840T
p.P351S
p.P351S
p.P568S
p.P544S
p.P603S
p.P614S
p.P614S
21.13.314E-5Dou2017 E
DIAPH3     5-0110-003chr13:
60401243-60401243
GAintronicDe novo--Yuen2017 G
DIAPH3     5-0014-004chr13:
60657282-60657282
ACintronicDe novo--Yuen2017 G
DIAPH3     5-0017-003chr13:
60409062-60409062
CAintronicDe novo--Yuen2017 G
DIAPH3     2-1129-003chr13:
60483546-60483546
AGintronicDe novo--Yuen2016 G
Yuen2017 G
DIAPH3     A15chr13:
60469224-60469224
TCintronicDe novo--Wu2018 G
DIAPH3     PN400277chr13:
60348895-60348895
GAexonicUnknownnonsynonymous SNVNM_030932
NM_001258367
NM_001258368
NM_001258366
NM_001042517
NM_001258369
c.C2437T
c.C3088T
c.C3016T
c.C3193T
c.C3226T
c.C3226T
p.R813C
p.R1030C
p.R1006C
p.R1065C
p.R1076C
p.R1076C
18.910.0017Leblond2019 E
DIAPH3     AU4015302chr13:
60444945-60444945
CTintronicDe novo--Yuen2017 G
DIAPH3     14647.p1chr13:
60544175-60544175
CAexonicMosaicnonsynonymous SNVNM_001258370
NM_030932
NM_001258367
NM_001258368
NM_001258366
NM_001042517
NM_001258369
c.G1188T
c.G1188T
c.G1839T
c.G1767T
c.G1944T
c.G1977T
c.G1977T
p.M396I
p.M396I
p.M613I
p.M589I
p.M648I
p.M659I
p.M659I
12.28-Dou2017 E
DIAPH3     1-0524-003chr13:
60561172-60561172
CAintronicDe 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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