Variant Results

or

Results for "CD109"

Variant Events: 30

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

2-0214-004

chr6:
74673510-74673510

T

C

intergenic

De novo

-

Yuen2017 G

CD109

1-0593-003

chr6:
74666171-74666171

G

A

intergenic

De novo

-

Yuen2017 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

AU076509

chr6:
74765804-74765804

G

T

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

NDAR_INVWZ977FF5_wes1

chr6:
74481335-74481335

T

C

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

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

2-1437-004

chr6:
74671060-74671060

A

G

intergenic

De novo

-

Yuen2017 G

CD109

AU030804

chr6:
74529020-74529020

T

C

intronic

De novo

-

Yuen2017 G

CD109

13637.p1

chr6:
74416303-74416303

A

G

intronic

De novo

-

Wilfert2021 G

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

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

CD109

AU3636302

chr6:
74582131-74582131

A

T

intergenic

De novo

-

Yuen2017 G

CD109

1-0160-004

chr6:
74655650-74655650

A

G

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

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

iHART1454

chr6:
74533180-74533180

A

G

splicing

Paternal

splicing

10.83

1.0E-4

Ruzzo2019 G

CD109

AU047703

chr6:
74473089-74473089

G

C

intronic

De novo

-

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

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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