Variant Results

or

Results for "DIDO1"

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

DIDO1

13766.p1

chr20:
61512743-61512743

G

A

exonic

De novo

nonsynonymous SNV

NM_001193369
NM_033081

c.C4565T
c.C4565T

p.S1522F
p.S1522F

19.15

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

DIDO1

5-5119-003

chr20:
61568931-61568931

G

C

intronic

De novo

-

Trost2022 G
Trost2022 G

DIDO1

AU1404301

chr20:
61567865-61567865

A

C

intronic

De novo

-

Trost2022 G

DIDO1

MSSNG00001-004

chr20:
61566749-61566752

ATGC

A

intronic

De novo

-

Trost2022 G

DIDO1

MSSNG00020-004

chr20:
61552101-61552101

A

G

intronic

De novo

-

Trost2022 G

DIDO1

AU4269301

chr20:
61548689-61548689

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DIDO1

MSSNG00436-003

chr20:
61551137-61551137

T

A

intronic

De novo

-

Trost2022 G

DIDO1

2-1270-005

chr20:
61540591-61540591

A

C

intronic

De novo

-

Trost2022 G

DIDO1

mAGRE1705

chr20:
61542291-61542291

A

AC

exonic

Paternal

frameshift insertion

NM_001193369
NM_001193370
NM_022105
NM_033081
NM_080796
NM_080797

c.673dupG
c.673dupG
c.673dupG
c.673dupG
c.673dupG
c.673dupG

p.V225fs
p.V225fs
p.V225fs
p.V225fs
p.V225fs
p.V225fs

-

Cirnigliaro2023 G

DIDO1

AU4159301

chr20:
61533486-61533486

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DIDO1

203-08-109922

chr20:
61510573-61510573

C

T

UTR3

De novo

-

Satterstrom2020 E
Trost2022 G

DIDO1

13766_p1

chr20:
61512743-61512743

G

A

exonic

De novo

nonsynonymous SNV

NM_001193369
NM_033081

c.C4565T
c.C4565T

p.S1522F
p.S1522F

19.15

-

Fu2022 E

DIDO1

TRE_2282

chr20:
61511495-61511495

C

T

exonic

De novo

nonsynonymous SNV

NM_001193369
NM_033081

c.G5813A
c.G5813A

p.R1938Q
p.R1938Q

16.77

1.719E-5

Fu2022 E

DIDO1

2-0126-003

chr20:
61511208-61511208

G

A

exonic

De novo

nonsynonymous SNV

NM_001193369
NM_033081

c.C6100T
c.C6100T

p.P2034S
p.P2034S

13.01

-

Yuen2015 G
Zhou2022 GE

DIDO1

SP0043255

chr20:
61523352-61523352

G

A

exonic

De novo

nonsynonymous SNV

NM_001193369
NM_001193370
NM_033081
NM_080797

c.C3332T
c.C3332T
c.C3332T
c.C3332T

p.S1111F
p.S1111F
p.S1111F
p.S1111F

22.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DIDO1

SP0028011

chr20:
61525222-61525222

C

T

exonic

De novo

nonsynonymous SNV

NM_001193369
NM_001193370
NM_033081
NM_080797

c.G2897A
c.G2897A
c.G2897A
c.G2897A

p.R966Q
p.R966Q
p.R966Q
p.R966Q

35.0

8.259E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

DIDO1

SP0107372

chr20:
61520541-61520541

A

G

UTR3

De novo

-

Fu2022 E
Trost2022 G

DIDO1

MT_107.3

chr20:
61542509-61542509

G

A

exonic

De novo

synonymous SNV

NM_001193369
NM_001193370
NM_022105
NM_033081
NM_080796
NM_080797

c.C456T
c.C456T
c.C456T
c.C456T
c.C456T
c.C456T

p.S152S
p.S152S
p.S152S
p.S152S
p.S152S
p.S152S

-

8.259E-5

Trost2022 G
Zhou2022 GE

DIDO1

3-0454-000

chr20:
61531483-61531483

G

C

intronic

De novo

-

Trost2022 G

DIDO1

mAGRE1704

chr20:
61542291-61542291

A

AC

exonic

Paternal

frameshift insertion

NM_001193369
NM_001193370
NM_022105
NM_033081
NM_080796
NM_080797

c.673dupG
c.673dupG
c.673dupG
c.673dupG
c.673dupG
c.673dupG

p.V225fs
p.V225fs
p.V225fs
p.V225fs
p.V225fs
p.V225fs

-

Cirnigliaro2023 G

DIDO1

MSSNG00424-004

chr20:
61529168-61529183

TGCCAGGGGACAGATG

T

intronic

De novo

-

Trost2022 G

DIDO1

AU4250301

chr20:
61536453-61536453

T

C

UTR3

De novo

-

Trost2022 G
Yuen2017 G

DIDO1

iHART1705

chr20:
61542291-61542291

A

AC

exonic

Paternal

frameshift insertion

NM_001193369
NM_001193370
NM_022105
NM_033081
NM_080796
NM_080797

c.673dupG
c.673dupG
c.673dupG
c.673dupG
c.673dupG
c.673dupG

p.V225fs
p.V225fs
p.V225fs
p.V225fs
p.V225fs
p.V225fs

-

Ruzzo2019 G

DIDO1

iHART1704

chr20:
61542291-61542291

A

AC

exonic

Paternal

frameshift insertion

NM_001193369
NM_001193370
NM_022105
NM_033081
NM_080796
NM_080797

c.673dupG
c.673dupG
c.673dupG
c.673dupG
c.673dupG
c.673dupG

p.V225fs
p.V225fs
p.V225fs
p.V225fs
p.V225fs
p.V225fs

-

Ruzzo2019 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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