Variant Results

or

Results for "MCTP2"

Variant Events: 63

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

MCTP2

AU2495301

chr15:
95002396-95002396

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MCTP2

SP0244450

chr15:
94884094-94884094

A

C

exonic

De novo

nonsynonymous SNV

NM_001159643
NM_018349

c.A910C
c.A910C

p.M304L
p.M304L

15.19

7.0E-4

Trost2022 G

MCTP2

IBS-ASD-18803-blood-wgs-ILLUMINA

chr15:
95202120-95202120

A

T

intergenic

De novo

-

Kim2024 G

MCTP2

SP0036063

chr15:
94901872-94901872

G

A

intronic

De novo

-

0.001

Trost2022 G

MCTP2

IBS-ASD-9653-blood-wgs-ILLUMINA

chr15:
95200201-95200201

G

A

intergenic

De novo

-

Kim2024 G

MCTP2

AU2186301

chr15:
94877010-94877010

A

G

intronic

De novo

-

Trost2022 G

MCTP2

IBS-ASD-17863-blood-wgs-ILLUMINA

chr15:
95195156-95195156

T

A

intergenic

De novo

-

Kim2024 G

MCTP2

2-1357-004

chr15:
95054705-95054705

G

C

intergenic

De novo

-

Yuen2017 G

MCTP2

AU1448303

chr15:
94881291-94881291

T

C

intronic

De novo

-

Trost2022 G

MCTP2

IBS-ASD-10403-blood-wgs-ILLUMINA

chr15:
95017823-95017823

C

T

intronic

De novo

-

Kim2024 G

MCTP2

AU3692301

chr15:
95104146-95104146

C

T

intergenic

De novo

-

Yuen2017 G

MCTP2

IBS-ASD-29863-blood-wgs-ILLUMINA

chr15:
95008307-95008307

T

C

intronic

De novo

-

Kim2024 G

MCTP2

IBS-ASD-19133-blood-wgs-ILLUMINA

chr15:
94942891-94942891

T

A

intronic

De novo

-

Kim2024 G

MCTP2

IBS-ASD-32783-blood-wgs-ILLUMINA

chr15:
94844484-94844484

G

A

intronic

De novo

-

Kim2024 G

MCTP2

MSSNG00038-004

chr15:
94949443-94949443

C

T

intronic

De novo

-

Trost2022 G

MCTP2

7-0095-004

chr15:
94996386-94996386

T

C

intronic

De novo

-

Trost2022 G

MCTP2

MSSNG00349-004

chr15:
94928788-94928788

T

C

intronic

De novo

-

Trost2022 G

MCTP2

7-0405-003

chr15:
94942667-94942667

C

G

intronic

De novo

-

Trost2022 G

MCTP2

7-0462-004

chr15:
94922076-94922076

T

C

intronic

De novo

-

Trost2022 G

MCTP2

IBS-ASD-13413-blood-wgs-ILLUMINA

chr15:
95368878-95368878

C

T

intergenic

De novo

-

Kim2024 G

MCTP2

1-0242-003

chr15:
94923061-94923067

ATATAAT

A

intronic

De novo

-

Trost2022 G

MCTP2

IBS-ASD-17343-blood-wgs-ILLUMINA

chr15:
95282899-95282899

A

T

intergenic

De novo

-

Kim2024 G

MCTP2

SP0034905

chr15:
95022265-95022265

G

A

UTR3

De novo

-

Fu2022 E
Trost2022 G

MCTP2

MT_50.3

chr15:
94908315-94908315

T

TC

intronic

De novo

-

Trost2022 G

MCTP2

IBS-ASD-9453-blood-wgs-ILLUMINA

chr15:
95250049-95250051

ATT

A

intergenic

De novo

-

Kim2024 G

MCTP2

SP0054651

chr15:
95022250-95022250

G

A

exonic

De novo

nonsynonymous SNV

NM_001159643
NM_018349

c.G2459A
c.G2624A

p.R820H
p.R875H

25.6

7.518E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

MCTP2

MSSNG00235-003

chr15:
94921398-94921398

A

G

intronic

De novo

-

Trost2022 G

MCTP2

IBS-ASD-9643-blood-wgs-ILLUMINA

chr15:
95212110-95212110

C

A

intergenic

De novo

-

Kim2024 G

MCTP2

3-0185-000

chr15:
95165929-95165929

A

G

intergenic

De novo

-

Yuen2017 G

MCTP2

AU3912302

chr15:
95159252-95159252

G

A

intergenic

De novo

-

Yuen2017 G

MCTP2

3-0197-000

chr15:
95025783-95025783

C

T

UTR3

De novo

-

Trost2022 G

MCTP2

AU3122301

chr15:
94889495-94889495

A

G

intronic

De novo

-

Yuen2017 G

MCTP2

1-0489-003

chr15:
95175272-95175272

C

T

intergenic

De novo

-

Yuen2017 G

MCTP2

Durbagula2024:13C

chr15:
94884061-94884061

A

T

exonic

Maternal

stopgain

NM_001159643
NM_018349

c.A877T
c.A877T

p.K293X
p.K293X

36.0

8.414E-6

Durbagula2024 E

MCTP2

1-0906-003

chr15:
95060660-95060660

A

G

intergenic

De novo

-

Yuen2017 G

MCTP2

3-0065-000

chr15:
94886247-94886259

CTATATATATATA

CTATATATATATATA

intronic

De novo

-

Yuen2017 G

MCTP2

AU006804

chr15:
94977361-94977361

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MCTP2

7-0273-003

chr15:
94999278-94999278

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MCTP2

2-1107-003

chr15:
95265623-95265623

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MCTP2

1-0373-003

chr15:
95020836-95020836

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MCTP2

SSC02800

chr15:
94841642-94841642

C

G

exonic

De novo

nonsynonymous SNV

NM_001159643
NM_018349

c.C148G
c.C148G

p.L50V
p.L50V

7.593

-

Fu2022 E
Trost2022 G

MCTP2

AU024104

chr15:
95195056-95195056

A

G

intergenic

De novo

-

Yuen2017 G

MCTP2

1-0590-003

chr15:
95152447-95152447

G

T

intergenic

De novo

-

Yuen2017 G

MCTP2

AU027506

chr15:
95283609-95283609

T

G

intergenic

De novo

-

Yuen2017 G

MCTP2

AU027506

chr15:
95384868-95384868

T

C

intergenic

De novo

-

Yuen2017 G

MCTP2

1-0862-003

chr15:
94889381-94889383

CAG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MCTP2

2-0068-003

chr15:
94923337-94923337

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MCTP2

2-1129-003

chr15:
95305830-95305830

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MCTP2

mAGRE5140

chr15:
94928755-94928755

G

A

splicing

Maternal

splicing

24.3

1.0E-4

Cirnigliaro2023 G

MCTP2

mAGRE2768

chr15:
94927292-94927292

C

T

exonic

Maternal

stopgain

NM_001159644
NM_001159643
NM_018349

c.C388T
c.C1624T
c.C1624T

p.R130X
p.R542X
p.R542X

39.0

2.0E-4

Cirnigliaro2023 G

MCTP2

1-0912-003

chr15:
94964914-94964914

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MCTP2

1-0073-003

chr15:
95160267-95160267

A

G

intergenic

De novo

-

Yuen2017 G

MCTP2

11214.p1

chr15:
94841642-94841642

C

G

exonic

De novo

nonsynonymous SNV

NM_001159643
NM_018349

c.C148G
c.C148G

p.L50V
p.L50V

7.593

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

MCTP2

2-1428-003

chr15:
95200947-95200948

TG

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MCTP2

AU3874303

chr15:
95239654-95239654

G

A

intergenic

De novo

-

Yuen2017 G

MCTP2

2-0145-003

chr15:
95215038-95215038

G

A

intergenic

De novo

-

Yuen2017 G

MCTP2

AU046707

chr15:
95274880-95274880

T

A

intergenic

De novo

-

Yuen2017 G

MCTP2

AU3874303

chr15:
95305241-95305241

C

T

intergenic

De novo

-

Yuen2017 G

MCTP2

iHART2768

chr15:
94927292-94927292

C

T

exonic

Maternal

stopgain

NM_001159644
NM_001159643
NM_018349

c.C388T
c.C1624T
c.C1624T

p.R130X
p.R542X
p.R542X

39.0

2.0E-4

Ruzzo2019 G

MCTP2

2-1246-003

chr15:
95067407-95067407

G

GC

intergenic

De novo

-

Yuen2017 G

MCTP2

1-0558-003

chr15:
95278622-95278628

CCTTCTT

CCTT

intergenic

De novo

-

Yuen2017 G

MCTP2

AU3955303

chr15:
95264285-95264285

C

T

intergenic

De novo

-

Yuen2017 G

MCTP2

74-0075

chr15:
95135361-95135361

T

C

intergenic

De novo

-

Michaelson2012 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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