Variant Results

or

or

Results for "MAD1L1"

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

MAD1L1

SP0021829

chr7:
2257682-2257682

T

G

intronic

De novo

-

-

Fu2022 E

MAD1L1

3-0469-000

chr7:
2137759-2137759

C

T

intronic

De novo

-

-

Yuen2017 G

MAD1L1

SP0060927

chr7:
2262349-2262349

C

T

exonic

De novo

nonsynonymous SNV

NM_001304523
NM_001013836
NM_001013837
NM_003550

c.G332A
c.G332A
c.G332A
c.G332A

p.R111Q
p.R111Q
p.R111Q
p.R111Q

21.5

Fu2022 E

MAD1L1

11135.p1

chr7:
2035905-2035906

TC

T

intronic

Maternal

-

-

Wilfert2021 G

MAD1L1

SP0040973

chr7:
2108753-2108753

T

G

intronic

De novo

-

-

Fu2022 E

MAD1L1

SP0022789

chr7:
2054374-2054374

G

C

intronic

De novo

-

-

Fu2022 E

MAD1L1

1-0558-003

chr7:
1915815-1915815

G

A

intronic

De novo

-

-

Yuen2017 G

MAD1L1

AU3451301

chr7:
2086956-2086956

G

A

intronic

De novo

-

-

Yuen2017 G

MAD1L1

1-0412-003

chr7:
2223986-2223986

A

T

intronic

De novo

-

-

Yuen2017 G

MAD1L1

2-1383-003

chr7:
2244446-2244448

GAA

GA

intronic

De novo

-

-

Yuen2017 G

MAD1L1

2-0007-004

chr7:
1928026-1928026

G

GGCTGCC

intronic

De novo

-

-

Yuen2017 G

MAD1L1

1501JS0014

chr7:
2041753-2041753

G

A

exonic

De novo

stopgain

NM_001304524
NM_001304523
NM_001013836
NM_001013837
NM_003550

c.C1087T
c.C1363T
c.C1363T
c.C1363T
c.C1363T

p.Q363X
p.Q455X
p.Q455X
p.Q455X
p.Q455X

44.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MAD1L1

1-0756-003

chr7:
2081673-2081673

C

G

intronic

De novo

-

-

Yuen2017 G

MAD1L1

2-0295-004

chr7:
2099901-2099901

C

CGCCGAT

intronic

De novo

-

-

Yuen2017 G

MAD1L1

AU4060306

chr7:
1964490-1964490

C

A

intronic

De novo

-

-

Yuen2017 G

MAD1L1

2-1427-003

chr7:
2088710-2088712

CAA

CA

intronic

De novo

-

-

Yuen2017 G

MAD1L1

7-0219-003

chr7:
2048239-2048239

G

A

intronic

De novo

-

-

Yuen2017 G

MAD1L1

1-0150-004

chr7:
2210130-2210130

G

A

intronic

De novo

-

-

Yuen2017 G

MAD1L1

AU3154302

chr7:
2055867-2055867

G

A

intronic

De novo

-

-

Yuen2017 G

MAD1L1

1-0158-012

chr7:
2021188-2021190

CAA

C

intronic

De novo

-

-

Yuen2017 G

MAD1L1

AU2139305

chr7:
2239766-2239766

G

A

intronic

De novo

-

-

Yuen2017 G

MAD1L1

2-1327-004

chr7:
2057649-2057649

G

A

intronic

De novo

-

-

Yuen2017 G

MAD1L1

AU2495301

chr7:
2008779-2008779

G

C

intronic

De novo

-

-

Yuen2017 G

MAD1L1

2-1509-003

chr7:
2136436-2136436

G

A

intronic

De novo

-

-

Yuen2017 G

MAD1L1

2-1356-003

chr7:
1927950-1927962

ATGTGTGTGTGTG

ATGTGTGTGTG

intronic

De novo

-

-

Yuen2017 G

MAD1L1

3-0185-000

chr7:
1926293-1926293

C

A

intronic

De novo

-

-

Yuen2017 G

MAD1L1

7-0197-003

chr7:
2055340-2055340

T

G

intronic

De novo

-

-

Yuen2017 G

MAD1L1

5-0095-003

chr7:
2066893-2066893

C

T

intronic

De novo

-

-

Yuen2017 G

MAD1L1

2-1153-003

chr7:
2250455-2250455

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MAD1L1

14637.p1

chr7:
2074865-2074865

G

A

intronic

De novo

-

-

Turner2016 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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