Variant Results

or

Results for "DYNC2H1"

Variant Events: 74

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

DYNC2H1

DEASD_0292_001

chr11:
103178533-103178533

A

G

exonic

De novo

synonymous SNV

NM_001377
NM_001080463

c.A11466G
c.A11487G

p.L3822L
p.L3829L

-

4.792E-5

Lim2017 E

DYNC2H1

SSC06657

chr11:
103006497-103006497

A

G

exonic

De novo

synonymous SNV

NM_001080463
NM_001377

c.A2394G
c.A2394G

p.K798K
p.K798K

-

Lim2017 E
Trost2022 G

DYNC2H1

2-0202-004

chr11:
103588561-103588561

T

C

intergenic

De novo

-

Yuen2017 G

DYNC2H1

AU2950302

chr11:
103694249-103694249

C

T

intergenic

De novo

-

Yuen2017 G

DYNC2H1

1-0329-003

chr11:
103155884-103155884

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC2H1

AU4145301

chr11:
103296804-103296804

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC2H1

2-0285-004

chr11:
103473956-103473956

T

A

intergenic

De novo

-

Yuen2017 G

DYNC2H1

2-0244-003

chr11:
103719250-103719250

C

CACCAAA

intergenic

De novo

-

Yuen2017 G

DYNC2H1

2-0295-003

chr11:
103717880-103717880

A

G

intergenic

De novo

-

Yuen2017 G

DYNC2H1

AU2792301

chr11:
103272720-103272720

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC2H1

1-0465-003a

chr11:
103408621-103408621

T

C

intergenic

De novo

-

Yuen2017 G

DYNC2H1

7-0143-003

chr11:
103047583-103047583

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC2H1

F9602-1

chr11:
103047007-103047007

C

G

exonic

De novo

synonymous SNV

NM_001080463
NM_001377

c.C5718G
c.C5718G

p.T1906T
p.T1906T

-

Fu2022 E

DYNC2H1

1-0756-004

chr11:
103041675-103041675

G

T

exonic

De novo

nonsynonymous SNV

NM_001080463
NM_001377

c.G5212T
c.G5212T

p.G1738C
p.G1738C

24.2

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

DYNC2H1

MSSNG00025-003

chr11:
103021314-103021314

G

C

intronic

De novo

-

Trost2022 G

DYNC2H1

1-0640-003

chr11:
103054172-103054173

GA

G

intronic

De novo

-

Trost2022 G

DYNC2H1

1-0760-004

chr11:
103000981-103000981

A

C

intronic

De novo

-

Trost2022 G

DYNC2H1

5-1012-004

chr11:
103012889-103012889

G

A

intronic

De novo

-

Trost2022 G

DYNC2H1

SP0083515

chr11:
102984973-102984973

T

G

intronic

De novo

-

Trost2022 G

DYNC2H1

AU2525302

chr11:
103479027-103479027

C

G

intergenic

De novo

-

Yuen2017 G

DYNC2H1

MSSNG00221-003

chr11:
103158899-103158899

C

T

intronic

De novo

-

Trost2022 G

DYNC2H1

1024

chr11:
103179495-103179495

T

TG

intronic

De novo

-

Trost2022 G

DYNC2H1

AU078503

chr11:
103412874-103412874

T

C

intergenic

De novo

-

Yuen2017 G

DYNC2H1

SP0151626

chr11:
103128448-103128448

C

T

exonic

De novo

stopgain

NM_001377
NM_001080463

c.C10573T
c.C10594T

p.R3525X
p.R3532X

52.0

1.0E-4

Trost2022 G

DYNC2H1

1-1084-003

chr11:
103146973-103146973

G

A

intronic

De novo

-

Trost2022 G

DYNC2H1

1-0006-004

chr11:
103078350-103078351

CA

AG

intronic

De novo

-

Trost2022 G

DYNC2H1

AU2770301

chr11:
103109994-103109994

A

T

intronic

De novo

-

Trost2022 G

DYNC2H1

MSSNG00395-003

chr11:
103071799-103071799

T

G

intronic

De novo

-

Trost2022 G

DYNC2H1

2-1364-003

chr11:
103107908-103107908

G

A

intronic

De novo

-

Yuen2017 G

DYNC2H1

68575

chr11:
103075511-103075511

A

C

intronic

De novo

-

Trost2022 G

DYNC2H1

SP0019824

chr11:
103173970-103173970

G

A

exonic

De novo

synonymous SNV

NM_001377
NM_001080463

c.G11244A
c.G11265A

p.E3748E
p.E3755E

-

1.661E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DYNC2H1

3-0007-000

chr11:
103203654-103203654

C

G

intronic

De novo

-

Trost2022 G

DYNC2H1

SP0118854

chr11:
103040909-103040909

A

T

exonic

De novo

nonsynonymous SNV

NM_001080463
NM_001377

c.A5041T
c.A5041T

p.M1681L
p.M1681L

12.98

-

Fu2022 E
Zhou2022 GE

DYNC2H1

MT_74.3

chr11:
103232363-103232363

A

C

intronic

De novo

-

Trost2022 G

DYNC2H1

1-0067-005

chr11:
103199787-103199789

TGA

AGT

intronic

De novo

-

Trost2022 G

DYNC2H1

AU4015301

chr11:
103677982-103677982

G

A

intergenic

De novo

-

Yuen2017 G

DYNC2H1

SP0030276

chr11:
103029387-103029388

AC

A

intronic

De novo

-

Fu2022 E

DYNC2H1

5-0050-003

chr11:
103201262-103201266

ACTAA

CCGCGCCCGGCCC

intronic

De novo

-

Trost2022 G

DYNC2H1

iHART1443

chr11:
102992106-102992106

C

T

exonic

Paternal

stopgain

NM_001080463
NM_001377

c.C1366T
c.C1366T

p.R456X
p.R456X

38.0

-

Ruzzo2019 G

DYNC2H1

4-0010-003

chr11:
103194469-103194469

G

GTTAA

intronic

De novo

-

Trost2022 G

DYNC2H1

2-1117-003

chr11:
103185081-103185081

T

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DYNC2H1

13455.p1

chr11:
103026257-103026257

A

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

DYNC2H1

2-0139-004

chr11:
103197511-103197511

C

G

intronic

De novo

-

Trost2022 G

DYNC2H1

SP0121538

chr11:
103173894-103173894

T

G

exonic

De novo

nonsynonymous SNV

NM_001377
NM_001080463

c.T11168G
c.T11189G

p.I3723S
p.I3730S

18.84

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DYNC2H1

AU2320301

chr11:
103189727-103189727

C

CT

intronic

De novo

-

Trost2022 G

DYNC2H1

SP0039742

chr11:
102984913-102984913

C

T

exonic

De novo

stopgain

NM_001080463
NM_001377

c.C448T
c.C448T

p.R150X
p.R150X

37.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DYNC2H1

7-0457-004

chr11:
103189972-103189972

C

A

intronic

De novo

-

Trost2022 G

DYNC2H1

2-1398-003

chr11:
103306741-103306741

C

T

exonic

De novo

nonsynonymous SNV

NM_001377
NM_001080463

c.C12437T
c.C12458T

p.A4146V
p.A4153V

14.54

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

DYNC2H1

1-0173-004

chr11:
103262624-103262624

A

AT

intronic

De novo

-

Yuen2017 G

DYNC2H1

REACH000559

chr11:
103332261-103332261

A

G

intronic

De novo

-

Trost2022 G

DYNC2H1

2-0310-003

chr11:
103347755-103347755

A

TGT

intronic

De novo

-

Trost2022 G

DYNC2H1

7-0292-004A

chr11:
103256572-103256572

T

C

intronic

De novo

-

Trost2022 G

DYNC2H1

1-0465-003

chr11:
103408621-103408621

T

C

intergenic

De novo

-

Yuen2017 G

DYNC2H1

3-0107-001

chr11:
103316053-103316053

A

G

intronic

De novo

-

Trost2022 G

DYNC2H1

MT_160

chr11:
103175330-103175330

A

G

exonic

Maternal

nonsynonymous SNV

NM_001377
NM_001080463

c.A11263G
c.A11284G

p.M3755V
p.M3762V

21.5

4.0E-4

Toma2013 E

DYNC2H1

1-0385-003

chr11:
103641688-103641688

G

A

intergenic

De novo

-

Yuen2017 G

DYNC2H1

AU3368303

chr11:
102986141-102986141

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC2H1

AU2793303

chr11:
103585277-103585284

CCAACAAC

CCAAC

intergenic

De novo

-

Yuen2017 G

DYNC2H1

AU3808304

chr11:
103496959-103496959

C

T

intergenic

De novo

-

Yuen2017 G

DYNC2H1

1-0912-003

chr11:
103614613-103614613

A

G

intergenic

De novo

-

Yuen2017 G

DYNC2H1

12651.p1

chr11:
103006497-103006497

A

G

exonic

De novo

synonymous SNV

NM_001080463
NM_001377

c.A2394G
c.A2394G

p.K798K
p.K798K

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

DYNC2H1

5-0083-003

chr11:
103594300-103594300

C

T

intergenic

De novo

-

Yuen2017 G

DYNC2H1

2-0003-003

chr11:
103088961-103088961

A

ATGAAAACG

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC2H1

AU3874303

chr11:
103165164-103165164

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC2H1

1-0570-003

chr11:
103339821-103339821

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC2H1

mAGRE5842

chr11:
103093816-103093816

G

GT

splicing

Paternal

splicing

-

1.302E-5

Cirnigliaro2023 G

DYNC2H1

mAGRE5415

chr11:
103005110-103005110

C

T

exonic

Paternal

stopgain

NM_001080463
NM_001377

c.C2167T
c.C2167T

p.Q723X
p.Q723X

39.0

1.658E-5

Cirnigliaro2023 G

DYNC2H1

mAGRE5413

chr11:
103005110-103005110

C

T

exonic

Paternal

stopgain

NM_001080463
NM_001377

c.C2167T
c.C2167T

p.Q723X
p.Q723X

39.0

1.658E-5

Cirnigliaro2023 G

DYNC2H1

mAGRE1443

chr11:
102992106-102992106

C

T

exonic

Paternal

stopgain

NM_001080463
NM_001377

c.C1366T
c.C1366T

p.R456X
p.R456X

38.0

-

Cirnigliaro2023 G

DYNC2H1

AU4033304

chr11:
103549981-103549981

G

A

intergenic

De novo

-

Yuen2017 G

DYNC2H1

2-1292-003

chr11:
103626816-103626816

A

G

intergenic

De novo

-

Yuen2017 G

DYNC2H1

2-0129-005

chr11:
103133831-103133831

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC2H1

11445.p1

chr11:
103075511-103075511

A

C

intronic

De novo

-

Satterstrom2020 E

DYNC2H1

1-0201-005

chr11:
103161745-103161745

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

Source Variant Information

, -

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 notes	View
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