Variant Results

or

Results for "DIP2C"

Variant Events: 61

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

DIP2C

AU3721302

chr10:
662269-662269

T

C

intronic

De novo

-

Yuen2017 G

DIP2C

AU4462302

chr10:
610524-610524

C

G

intronic

De novo

-

Yuen2017 G

DIP2C

AU4462302

chr10:
614237-614237

A

G

intronic

De novo

-

Yuen2017 G

DIP2C

AU4462302

chr10:
615315-615315

A

G

intronic

De novo

-

Yuen2017 G

DIP2C

3-0458-000B

chr10:
451246-451246

C

A

intronic

De novo

-

Yuen2017 G

DIP2C

AU055004

chr10:
819488-819488

C

G

intergenic

De novo

-

Yuen2017 G

DIP2C

1-0871-003

chr10:
800394-800394

A

C

intergenic

De novo

-

Yuen2017 G

DIP2C

AU4365302

chr10:
612784-612784

G

A

intronic

De novo

-

Yuen2017 G

DIP2C

7-0253-004

chr10:
638493-638493

T

G

intronic

De novo

-

Yuen2017 G

DIP2C

2-0305-003

chr10:
491459-491459

T

A

intronic

De novo

-

Yuen2017 G

DIP2C

1-0971-003

chr10:
675215-675215

C

T

intronic

De novo

-

Yuen2017 G

DIP2C

2-1086-003

chr10:
725508-725508

C

CTCTG

intronic

De novo

-

Yuen2017 G

DIP2C

1-0368-004

chr10:
424678-424678

A

AAGACACGTGAACACACATGCAC

intronic

De novo

-

Yuen2017 G

DIP2C

12705.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_014974
NM_014974

c.1969dupG
c.1968dupG

p.A657fs
p.A657fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E

DIP2C

2-0273-003

chr10:
430130-430130

A

G

intronic

De novo

-

Yuen2017 G

DIP2C

2-1213-003

chr10:
400631-400631

G

A

intronic

De novo

-

Yuen2017 G

DIP2C

AU3124304

chr10:
717287-717287

C

CAG

intronic

De novo

-

Yuen2017 G

DIP2C

2-0011-004

chr10:
570796-570796

G

A

intronic

De novo

-

Yuen2017 G

DIP2C

A218803

chr10:
459957-459959

GGC

G

exonic

De novo

frameshift deletion

NM_014974

c.951_952del

p.P317fs

-

Fu2022 E

DIP2C

AU3779302

chr10:
733715-733715

G

C

intronic

De novo

-

Yuen2017 G

DIP2C

1-0144-004

chr10:
772653-772653

G

A

intergenic

De novo

-

Yuen2017 G

DIP2C

2-0270-004

chr10:
398437-398437

G

C

intronic

De novo

-

Yuen2017 G

DIP2C

AU1848302

chr10:
636250-636250

T

C

intronic

De novo

-

Yuen2017 G

DIP2C

SSC05172

chr10:
428608-428608

G

GC

exonic

De novo

frameshift insertion

NM_014974

c.1969dupG

p.A657fs

-

Antaki2022 GE
Fu2022 E

DIP2C

SP0093704

chr10:
375420-375420

T

G

exonic

De novo

nonsynonymous SNV

NM_014974

c.A3706C

p.M1236L

20.2

-

Fu2022 E

DIP2C

AU4359301

chr10:
821969-821969

G

A

intergenic

De novo

-

Yuen2017 G

DIP2C

SJD_45.3

chr10:
409180-409181

GA

G

exonic

frameshift deletion

NM_014974

c.2548delT

p.S850fs

-

Antaki2022 GE

DIP2C

SP0124483

chr10:
332238-332238

G

A

exonic

De novo

nonsynonymous SNV

NM_014974

c.C4094T

p.P1365L

15.39

-

Fu2022 E

DIP2C

3-0458-000A

chr10:
451246-451246

C

A

intronic

De novo

-

Yuen2017 G

DIP2C

1-0336-003

chr10:
351339-351339

A

G

intronic

De novo

-

Yuen2017 G

DIP2C

SP0023967

chr10:
356068-356068

C

T

intronic

De novo

-

Fu2022 E

DIP2C

1-0112-004

chr10:
685917-685917

C

T

intronic

De novo

-

Yuen2017 G

DIP2C

SP0061832

chr10:
327151-327151

G

A

exonic

De novo

synonymous SNV

NM_014974

c.C4407T

p.S1469S

-

2.472E-5

Fu2022 E

DIP2C

AU3777301

chr10:
445537-445537

A

G

intronic

De novo

-

Yuen2017 G

DIP2C

SP0087009

chr10:
460058-460058

G

A

intronic

De novo

-

Fu2022 E

DIP2C

AU3646301

chr10:
658785-658785

G

A

intronic

De novo

-

Yuen2017 G

DIP2C

AU3724301

chr10:
516452-516452

G

A

intronic

De novo

-

Yuen2017 G

DIP2C

2-1177-003

chr10:
412273-412273

G

GCA

exonic

De novo

frameshift insertion

NM_014974

c.2209_2210insTG

p.A737fs

-

Yuen2016 G

DIP2C

2-0149-005

chr10:
341467-341467

G

GTCCCA

intronic

De novo

-

Yuen2017 G

DIP2C

1-0487-003

chr10:
567256-567256

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DIP2C

2-1335-004

chr10:
477991-477991

C

T

intronic

De novo

-

Yuen2017 G

DIP2C

AU3727303

chr10:
545501-545501

A

G

intronic

De novo

-

Yuen2017 G

DIP2C

AU056604

chr10:
334694-334694

G

A

intronic

De novo

-

Yuen2017 G

DIP2C

1-0509-003

chr10:
628393-628393

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DIP2C

5-0083-003

chr10:
498669-498669

G

A

intronic

De novo

-

Yuen2017 G

DIP2C

3393_17au

chr10:
394633-394633

G

A

exonic

De novo

nonsynonymous SNV

NM_014974

c.C3179T

p.P1060L

31.0

8.241E-6

Fu2022 E

DIP2C

GM182701

chr10:
375249-375249

G

A

intronic

De novo

-

Fu2022 E

DIP2C

AU4067301

chr10:
325200-325200

C

A

intronic

De novo

-

Yuen2017 G

DIP2C

AU3889305

chr10:
658052-658052

T

C

intronic

De novo

-

Yuen2017 G

DIP2C

AU4479301

chr10:
369616-369619

CTGT

CT

intronic

De novo

-

Yuen2017 G

DIP2C

1-0560-003

chr10:
659077-659077

C

G

intronic

De novo

-

Yuen2017 G

DIP2C

AU2951303

chr10:
415063-415063

C

T

intronic

De novo

-

Yuen2017 G

DIP2C

3-0458-000

chr10:
451246-451246

C

A

intronic

De novo

-

Yuen2016 G

DIP2C

63-343

chr10:
673310-673310

C

T

intronic

De novo

-

Michaelson2012 G

DIP2C

EGAN00001101385

chr10:
445023-445023

A

T

intronic

De novo

-

Satterstrom2020 E

DIP2C

2-1261-003

chr10:
341467-341467

G

GTCCCA

intronic

De novo

-

Yuen2017 G

DIP2C

AU2951302

chr10:
415063-415063

C

T

intronic

De novo

-

Yuen2017 G

DIP2C

2-1379-003

chr10:
387534-387534

G

A

intronic

De novo

-

Yuen2017 G

DIP2C

1-0459-004

chr10:
546379-546379

T

C

intronic

De novo

-

Yuen2017 G

DIP2C

2-1497-003

chr10:
455214-455214

T

C

intronic

De novo

-

Yuen2017 G

DIP2C

1-0458-005

chr10:
505545-505545

T

TC

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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