Variant Results

or

Results for "CABIN1"

Variant Events: 41

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

CABIN1

iHART2614

chr22:
24459610-24459610

G

A

splicing

Maternal

splicing

23.0

8.238E-6

Ruzzo2019 G

CABIN1

DEASD_0426_001

chr22:
24452747-24452747

C

T

exonic

De novo

nonsynonymous SNV

NM_001201429
NM_001199281
NM_012295

c.C1036T
c.C1186T
c.C1186T

p.R346C
p.R396C
p.R396C

25.7

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CABIN1

iHART2613

chr22:
24459610-24459610

G

A

splicing

Maternal

splicing

23.0

8.238E-6

Ruzzo2019 G

CABIN1

iHART1374

chr22:
24445592-24445593

GC

G

exonic

Paternal

frameshift deletion

NM_001199281
NM_001201429
NM_012295

c.567delC
c.567delC
c.567delC

p.C189fs
p.C189fs
p.C189fs

-

8.241E-6

Ruzzo2019 G

CABIN1

102-10-113091

chr22:
24439358-24439358

G

T

intronic

De novo

-

8.318E-6

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CABIN1

G01-GEA-92-HI

chr22:
24480767-24480767

G

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

CABIN1

TAS_F5039Y

chr22:
24447404-24447408

CCTGA

C

exonic

De novo

frameshift deletion

NM_001199281
NM_012295

c.775_778del
c.775_778del

p.L259fs
p.L259fs

-

Fu2022 E

CABIN1

111300

chr22:
24462966-24462966

G

A

exonic

nonsynonymous SNV

NM_001201429
NM_001199281
NM_012295

c.G1916A
c.G2066A
c.G2066A

p.R639Q
p.R689Q
p.R689Q

36.0

1.648E-5

Woodbury-Smith2022 E

CABIN1

2-0309-004

chr22:
24462367-24462367

A

G

intronic

De novo

-

Trost2022 G

CABIN1

1-0158-012

chr22:
24531567-24531567

C

CCTCTA

intronic

De novo

-

Trost2022 G
Yuen2017 G

CABIN1

REACH000173

chr22:
24461818-24461818

G

A

intronic

De novo

-

Trost2022 G

CABIN1

mAGRE2614

chr22:
24459610-24459610

G

A

splicing

Maternal

splicing

23.0

8.238E-6

Cirnigliaro2023 G

CABIN1

MSSNG00369-005

chr22:
24460901-24460901

A

G

intronic

De novo

-

Trost2022 G

CABIN1

mAGRE2613

chr22:
24459610-24459610

G

A

splicing

Maternal

splicing

23.0

8.238E-6

Cirnigliaro2023 G

CABIN1

13757.p1

chr22:
24456554-24456554

A

C

exonic

De novo

nonsynonymous SNV

NM_001201429
NM_001199281
NM_012295

c.A1417C
c.A1567C
c.A1567C

p.T473P
p.T523P
p.T523P

13.19

-

Satterstrom2020 E

CABIN1

6265

chr22:
24456554-24456554

A

C

exonic

De novo

nonsynonymous SNV

NM_001201429
NM_001199281
NM_012295

c.A1417C
c.A1567C
c.A1567C

p.T473P
p.T523P
p.T523P

13.19

-

Trost2022 G

CABIN1

mAGRE1374

chr22:
24445592-24445593

GC

G

exonic

Paternal

frameshift deletion

NM_001199281
NM_001201429
NM_012295

c.567delC
c.567delC
c.567delC

p.C189fs
p.C189fs
p.C189fs

-

8.241E-6

Cirnigliaro2023 G

CABIN1

T2T9E-01

chr22:
24439351-24439351

T

G

intronic

De novo

-

8.348E-6

Trost2022 G

CABIN1

GEA416

chr22:
24431975-24431975

A

G

intronic

De novo

-

Fu2022 E

CABIN1

MSSNG00109-004

chr22:
24427456-24427456

T

A

intronic

De novo

-

Trost2022 G

CABIN1

1-0772-003

chr22:
24479388-24479388

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CABIN1

1-0616-003

chr22:
24407696-24407696

C

A

upstream

De novo

-

Trost2022 G

CABIN1

5-0030-003

chr22:
24564450-24564450

G

T

exonic

De novo

nonsynonymous SNV

NM_001201429
NM_001199281
NM_012295

c.G5568T
c.G5718T
c.G5718T

p.K1856N
p.K1906N
p.K1906N

18.65

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

CABIN1

11383.p1

chr22:
24515526-24515526

C

T

exonic

nonsynonymous SNV

NM_001201429
NM_001199281
NM_012295

c.C4343T
c.C4493T
c.C4493T

p.P1448L
p.P1498L
p.P1498L

34.0

8.286E-6

Zhou2022 GE

CABIN1

1-0562-003

chr22:
24452739-24452739

G

A

exonic

De novo

nonsynonymous SNV

NM_001201429
NM_001199281
NM_012295

c.G1028A
c.G1178A
c.G1178A

p.R343Q
p.R393Q
p.R393Q

36.0

-

Trost2022 G
Zhou2022 GE

CABIN1

2-1239-003

chr22:
24454018-24454018

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CABIN1

MSSNG00343-004

chr22:
24564432-24564432

G

A

exonic

De novo

synonymous SNV

NM_001201429
NM_001199281
NM_012295

c.G5550A
c.G5700A
c.G5700A

p.A1850A
p.A1900A
p.A1900A

-

Trost2022 G

CABIN1

SJD_49.4

chr22:
24559594-24559594

G

A

intronic

De novo

-

Trost2022 G

CABIN1

1-0288-004

chr22:
24536756-24536756

A

G

intronic

De novo

-

Trost2022 G

CABIN1

3-0404-000A

chr22:
24529210-24529210

A

T

intronic

De novo

-

Trost2022 G

CABIN1

MSSNG00099-003

chr22:
24466497-24466497

G

A

intronic

De novo

-

Trost2022 G

CABIN1

2-0309-004

chr22:
24462370-24462370

T

G

intronic

De novo

-

Trost2022 G

CABIN1

2-0225-004

chr22:
24502392-24502392

G

GCTCTGGGTTA

intronic

De novo

-

Trost2022 G
Yuen2017 G

CABIN1

MT_109

chr22:
24456455-24456455

C

T

exonic

Paternal

nonsynonymous SNV

NM_001201429
NM_001199281
NM_012295

c.C1318T
c.C1468T
c.C1468T

p.R440C
p.R490C
p.R490C

20.9

5.0E-4

Toma2013 E

CABIN1

2-0045-003

chr22:
24459686-24459721

GGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTG

GGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTG

intronic

De novo

-

Yuen2017 G

CABIN1

Wang2023:12

chr22:
24572112-24572112

C

G

exonic

De novo

nonsynonymous SNV

NM_001201429
NM_001199281
NM_012295

c.C5924G
c.C6074G
c.C6074G

p.T1975S
p.T2025S
p.T2025S

4.922

-

Wang2023 E

CABIN1

2-0116-004

chr22:
24556500-24556500

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CABIN1

SP0045530

chr22:
24432628-24432628

A

C

exonic

De novo

nonsynonymous SNV

NM_001199281
NM_001201429
NM_012295

c.A95C
c.A95C
c.A95C

p.Q32P
p.Q32P
p.Q32P

21.4

-

Fu2022 E

CABIN1

SP0146594

chr22:
24480599-24480599

T

C

exonic

De novo

nonsynonymous SNV

NM_001201429
NM_001199281
NM_012295

c.T2828C
c.T2978C
c.T2978C

p.F943S
p.F993S
p.F993S

29.3

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CABIN1

AU4433301

chr22:
24532253-24532253

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CABIN1

NDAR_INVCU674HCJ_wes1

chr22:
24460666-24460666

C

T

intronic

De novo

-

1.651E-5

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 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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