Variant Results

or

Results for "CD109"

Variant Events: 53

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

CD109

1-0593-003

chr6:
74666171-74666171

G

A

intergenic

De novo

-

Yuen2017 G

CD109

mAGRE1803

chr6:
74533316-74533318

TTC

T

exonic

Maternal

frameshift deletion

NM_001159588
NM_001159587
NM_133493

c.4067_4068del
c.4247_4248del
c.4298_4299del

p.F1356fs
p.F1416fs
p.F1433fs

-

2.0E-4

Cirnigliaro2023 G

CD109

mAGRE1454

chr6:
74533180-74533180

A

G

splicing

Paternal

splicing

10.83

1.0E-4

Cirnigliaro2023 G

CD109

2-1277-004

chr6:
74602880-74602880

G

C

intergenic

De novo

-

Yuen2017 G

CD109

AU066404

chr6:
74635826-74635826

C

A

intergenic

De novo

-

Yuen2017 G

CD109

mAGRE4936

chr6:
74524846-74524850

GGTAA

G

splicing

Maternal

splicing

-

8.39E-6

Cirnigliaro2023 G

CD109

AU076509

chr6:
74765804-74765804

G

T

intergenic

De novo

-

Yuen2017 G

CD109

MCD-001-3

chr6:
74495175-74495175

T

C

exonic

Maternal

nonsynonymous SNV

NM_001159588
NM_001159587
NM_133493

c.T2081C
c.T2312C
c.T2312C

p.F694S
p.F771S
p.F771S

19.49

4.0E-4

Tuncay2023 G

CD109

2-0012-004

chr6:
74745888-74745888

A

G

intergenic

De novo

-

Yuen2017 G

CD109

5-0106-003

chr6:
74635566-74635566

C

A

intergenic

De novo

-

Yuen2017 G

CD109

1-0113-003

chr6:
74407551-74407551

A

G

intronic

De novo

-

Yuen2016 G

CD109

MCD-001-3

chr6:
74530190-74530190

T

G

exonic

Paternal

nonsynonymous SNV

NM_001159588
NM_001159587
NM_133493

c.T3834G
c.T4014G
c.T4065G

p.N1278K
p.N1338K
p.N1355K

15.97

-

Tuncay2023 G

CD109

SP0063020

chr6:
74521943-74521943

C

T

exonic

nonsynonymous SNV

NM_001159588
NM_001159587
NM_133493

c.C3487T
c.C3667T
c.C3718T

p.P1163S
p.P1223S
p.P1240S

17.81

6.61E-5

Zhou2022 GE

CD109

SP0094676

chr6:
74516744-74516744

A

G

exonic

De novo

synonymous SNV

NM_001159588
NM_001159587
NM_133493

c.A2907G
c.A3138G
c.A3138G

p.V969V
p.V1046V
p.V1046V

-

Trost2022 G
Zhou2022 GE

CD109

1-0559-003

chr6:
74507834-74507834

T

TA

intronic

De novo

-

Yuen2017 G

CD109

11336_p1

chr6:
74440138-74440147

CTCTAATAGT

C

exonic

De novo

nonframeshift deletion

NM_001159587
NM_133493

c.349_357del
c.349_357del

p.117_119del
p.117_119del

-

Fu2022 E

CD109

1-0160-004

chr6:
74655650-74655650

A

G

intergenic

De novo

-

Yuen2017 G

CD109

AU047703

chr6:
74473089-74473089

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CD109

SP0105127

chr6:
74524654-74524654

G

A

intronic

De novo

-

Fu2022 E

CD109

SP0009415

chr6:
74440087-74440087

T

G

exonic

De novo

nonsynonymous SNV

NM_001159587
NM_133493

c.T297G
c.T297G

p.D99E
p.D99E

6.909

-

Fu2022 E

CD109

2-0214-004

chr6:
74673510-74673510

T

C

intergenic

De novo

-

Yuen2017 G

CD109

7-0001-003

chr6:
74721301-74721301

C

A

intergenic

De novo

-

Yuen2017 G

CD109

7-0001-003

chr6:
74721842-74721842

G

A

intergenic

De novo

-

Yuen2017 G

CD109

1-0289-003

chr6:
74656789-74656789

A

G

intergenic

De novo

-

Yuen2017 G

CD109

1-0565-004

chr6:
74741996-74741996

G

T

intergenic

De novo

-

Yuen2017 G

CD109

5-0041-003

chr6:
74714966-74714966

A

G

intergenic

De novo

-

Yuen2017 G

CD109

REACH000336

chr6:
74406721-74406724

TAAC

T

intronic

De novo

-

Trost2022 G

CD109

1-0625-003

chr6:
74504821-74504826

GATTCC

AAAAAA

intronic

De novo

-

Trost2022 G

CD109

1-0625-003

chr6:
74504829-74504837

TTTGTATTC

AAAAAAAAA

intronic

De novo

-

Trost2022 G

CD109

1-1215-003

chr6:
74469020-74469020

G

GT

intronic

De novo

-

Trost2022 G

CD109

NDAR_INVWZ977FF5_wes1

chr6:
74481335-74481335

T

C

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

CD109

2-1811-004

chr6:
74470610-74470610

C

T

intronic

De novo

-

Trost2022 G

CD109

3-0197-000

chr6:
74424984-74424984

A

G

intronic

De novo

-

Trost2022 G

CD109

2-1692-003

chr6:
74443088-74443088

C

A

intronic

De novo

-

Trost2022 G

CD109

MT_88.3

chr6:
74409623-74409623

T

C

intronic

De novo

-

Trost2022 G

CD109

MSSNG00032-003

chr6:
74418530-74418530

G

C

intronic

De novo

-

Trost2022 G

CD109

2-1437-004

chr6:
74671060-74671060

A

G

intergenic

De novo

-

Yuen2017 G

CD109

MSSNG00039-004

chr6:
74515298-74515298

G

A

intronic

De novo

-

Trost2022 G

CD109

AU030804

chr6:
74529020-74529020

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CD109

MSSNG00395-003

chr6:
74514890-74514890

A

G

intronic

De novo

-

Trost2022 G

CD109

MSSNG00395-003

chr6:
74514892-74514892

C

T

intronic

De novo

-

Trost2022 G

CD109

13637.p1

chr6:
74416303-74416303

A

G

intronic

De novo

-

Wilfert2021 G

CD109

2-1341-003

chr6:
74618082-74618082

C

T

intergenic

De novo

-

Yuen2017 G

CD109

11336.p1

chr6:
74440138-74440147

CTCTAATAGT

C

exonic

De novo

nonframeshift deletion

NM_001159587
NM_133493

c.349_357del
c.349_357del

p.117_119del
p.117_119del

-

Dong2014 E
Kosmicki2017 E
Krumm2015 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CD109

AU3636302

chr6:
74582131-74582131

A

T

intergenic

De novo

-

Yuen2017 G

CD109

1-0007-003

chr6:
74671190-74671190

C

G

intergenic

De novo

-

Yuen2017 G

CD109

iHART2351

chr6:
74520810-74520811

AC

A

exonic

Paternal

frameshift deletion

NM_001159588
NM_001159587
NM_133493

c.3412delC
c.3643delC
c.3643delC

p.P1138fs
p.P1215fs
p.P1215fs

-

Ruzzo2019 G

CD109

mAGRE2351

chr6:
74520810-74520811

AC

A

exonic

Paternal

frameshift deletion

NM_001159588
NM_001159587
NM_133493

c.3412delC
c.3643delC
c.3643delC

p.P1138fs
p.P1215fs
p.P1215fs

-

Cirnigliaro2023 G

CD109

mAGRE5516

chr6:
74493443-74493443

C

T

exonic

Maternal

stopgain

NM_001159588
NM_001159587
NM_133493

c.C1888T
c.C2119T
c.C2119T

p.Q630X
p.Q707X
p.Q707X

26.0

-

Cirnigliaro2023 G

CD109

iHART1803

chr6:
74533316-74533318

TTC

T

exonic

Maternal

frameshift deletion

NM_001159588
NM_001159587
NM_133493

c.4067_4068del
c.4247_4248del
c.4298_4299del

p.F1356fs
p.F1416fs
p.F1433fs

-

2.0E-4

Ruzzo2019 G

CD109

AU1894304

chr6:
74476710-74476710

C

T

exonic

Maternal

stopgain

NM_001159588
NM_001159587
NM_133493

c.C1243T
c.C1474T
c.C1474T

p.R415X
p.R492X
p.R492X

37.0

1.654E-5

Cirnigliaro2023 G

CD109

iHART1454

chr6:
74533180-74533180

A

G

splicing

Paternal

splicing

10.83

1.0E-4

Ruzzo2019 G

CD109

AU1894303

chr6:
74476710-74476710

C

T

exonic

Maternal

stopgain

NM_001159588
NM_001159587
NM_133493

c.C1243T
c.C1474T
c.C1474T

p.R415X
p.R492X
p.R492X

37.0

1.654E-5

Cirnigliaro2023 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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