Variant Results

or

or

Results for "DPH6"

Variant Events: 21

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

DPH6

2-1336-004

chr15:
35708135-35708135

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DPH6

SP0111063

chr15:
35812457-35812457

C

A

intronic

De novo

-

-

Trost2022 G

DPH6

MSSNG00073-003

chr15:
35798150-35798150

A

C

intronic

De novo

-

-

Trost2022 G

DPH6

AU3761302

chr15:
35746972-35746976

TAGTC

T

exonic

Paternal

frameshift deletion

NM_080650

c.358_361del

p.D120fs

-

Cirnigliaro2023 G

DPH6

MSSNG00073-003

chr15:
35798152-35798152

A

C

intronic

De novo

-

-

Trost2022 G

DPH6

AU3761301

chr15:
35746972-35746976

TAGTC

T

exonic

Paternal

frameshift deletion

NM_080650

c.358_361del

p.D120fs

-

Cirnigliaro2023 G

DPH6

2-0007-004

chr15:
35736443-35736443

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DPH6

AU018A

chr15:
35742921-35742921

T

C

exonic

De novo

nonsynonymous SNV

NM_080650

c.A470G

p.N157S

11.42

-

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DPH6

iHART3167

chr15:
35746972-35746976

TAGTC

T

exonic

Paternal

frameshift deletion

NM_080650

c.358_361del

p.D120fs

-

Ruzzo2019 G

DPH6

iHART3168

chr15:
35746972-35746976

TAGTC

T

exonic

Paternal

frameshift deletion

NM_080650

c.358_361del

p.D120fs

-

Ruzzo2019 G

DPH6

1-0559-004

chr15:
35749778-35749778

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DPH6

1-0372-003

chr15:
35707449-35707466

CTGTGTGTGTGTGTGTGT

CTGTGTGTGTGTGTGT

intronic

De novo

-

-

Yuen2017 G

DPH6

MT_54.3

chr15:
35790109-35790112

TTGA

T

intronic

De novo

-

-

Trost2022 G

DPH6

AU2792302

chr15:
35742985-35742985

G

A

exonic

Paternal

stopgain

NM_080650

c.C406T

p.Q136X

37.0

Cirnigliaro2023 G

DPH6

MSSNG00073-003

chr15:
35798144-35798145

AT

A

intronic

De novo

-

-

Trost2022 G

DPH6

2-0286-003

chr15:
35731925-35731931

GTTCACC

CTATGA

intronic

De novo

-

-

Trost2022 G

DPH6

SJD_58.3

chr15:
35746276-35746277

CA

C

intronic

De novo

-

-

Trost2022 G

DPH6

MSSNG00351-003

chr15:
35671038-35671038

T

G

intronic

De novo

-

-

Trost2022 G

DPH6

7-0462-004

chr15:
35719529-35719529

A

T

intronic

De novo

-

-

Trost2022 G

DPH6

3-0446-000

chr15:
35676747-35676747

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

DPH6

AU076509

chr15:
35704753-35704753

A

G

intronic

De novo

-

-

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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