Variant Results

or

Results for "MADD"

Variant Events: 13

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

MADD

SP0034419

chr11:
47305961-47305961

G

A

exonic

De novo

nonsynonymous SNV

NM_001135943
NM_001135944
NM_003682
NM_130470
NM_130471
NM_130472
NM_130473
NM_130474
NM_130475
NM_130476

c.G2002A
c.G2002A
c.G2002A
c.G2002A
c.G2002A
c.G2002A
c.G2002A
c.G2002A
c.G2002A
c.G2002A

p.A668T
p.A668T
p.A668T
p.A668T
p.A668T
p.A668T
p.A668T
p.A668T
p.A668T
p.A668T

36.0

-

Feliciano2019 E
Fu2022 E

MADD

12015.p1

chr11:
47317586-47317586

T

C

exonic

De novo

nonsynonymous SNV

NM_001135943
NM_001135944
NM_130470
NM_130472
NM_130474
NM_130476
NM_130471
NM_130473
NM_003682
NM_130475

c.T3493C
c.T3484C
c.T3625C
c.T3496C
c.T3496C
c.T3622C
c.T3556C
c.T3685C
c.T3739C
c.T3739C

p.S1165P
p.S1162P
p.S1209P
p.S1166P
p.S1166P
p.S1208P
p.S1186P
p.S1229P
p.S1247P
p.S1247P

13.46

5.77E-5

Satterstrom2020 E

MADD

6371007055178-C

chr11:
47315522-47315522

G

A

exonic

De novo

synonymous SNV

NM_001135943
NM_001135944
NM_130470
NM_130472
NM_130474
NM_130476
NM_130471
NM_130473
NM_003682
NM_130475

c.G3261A
c.G3261A
c.G3390A
c.G3261A
c.G3261A
c.G3390A
c.G3321A
c.G3450A
c.G3504A
c.G3504A

p.T1087T
p.T1087T
p.T1130T
p.T1087T
p.T1087T
p.T1130T
p.T1107T
p.T1150T
p.T1168T
p.T1168T

-

1.0E-4

Fu2022 E

MADD

11437.p1

chr11:
47304002-47304002

C

T

exonic

De novo

nonsynonymous SNV

NM_001135943
NM_001135944
NM_003682
NM_130470
NM_130471
NM_130472
NM_130473
NM_130474
NM_130475
NM_130476

c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T

p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C

29.8

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G

MADD

SSC00332

chr11:
47304002-47304002

C

T

exonic

De novo

nonsynonymous SNV

NM_001135943
NM_001135944
NM_003682
NM_130470
NM_130471
NM_130472
NM_130473
NM_130474
NM_130475
NM_130476

c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T
c.C1540T

p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C
p.R514C

29.8

-

Fu2022 E
Lim2017 E

MADD

SP0079226

chr11:
47330925-47330925

A

G

exonic

De novo

nonsynonymous SNV

NM_001135943
NM_001135944
NM_130470
NM_130472
NM_130474
NM_130476
NM_130471
NM_130473
NM_003682
NM_130475

c.A3716G
c.A3707G
c.A3848G
c.A3719G
c.A3719G
c.A3845G
c.A3779G
c.A3908G
c.A4025G
c.A4025G

p.D1239G
p.D1236G
p.D1283G
p.D1240G
p.D1240G
p.D1282G
p.D1260G
p.D1303G
p.D1342G
p.D1342G

23.9

-

Fu2022 E

MADD

1-0835-003

chr11:
47295814-47295814

A

G

intronic

De novo

-

Yuen2017 G

MADD

SP0134547

chr11:
47303157-47303157

C

G

exonic

De novo

nonsynonymous SNV

NM_001135943
NM_001135944
NM_003682
NM_130470
NM_130471
NM_130472
NM_130473
NM_130474
NM_130475
NM_130476

c.C1322G
c.C1322G
c.C1322G
c.C1322G
c.C1322G
c.C1322G
c.C1322G
c.C1322G
c.C1322G
c.C1322G

p.P441R
p.P441R
p.P441R
p.P441R
p.P441R
p.P441R
p.P441R
p.P441R
p.P441R
p.P441R

27.2

-

Fu2022 E

MADD

iHART1286

chr11:
47295525-47295529

CAGGT

C

exonic

Paternal

frameshift deletion

NM_001135943
NM_001135944
NM_003682
NM_130470
NM_130471
NM_130472
NM_130473
NM_130474
NM_130475
NM_130476

c.61_62del
c.61_62del
c.61_62del
c.61_62del
c.61_62del
c.61_62del
c.61_62del
c.61_62del
c.61_62del
c.61_62del

p.R21fs
p.R21fs
p.R21fs
p.R21fs
p.R21fs
p.R21fs
p.R21fs
p.R21fs
p.R21fs
p.R21fs

-

8.419E-6

Ruzzo2019 G

MADD

iHART2931

chr11:
47307000-47307000

A

G

splicing

Maternal

splicing

21.0

-

Ruzzo2019 G

MADD

iHART2932

chr11:
47307000-47307000

A

G

splicing

Maternal

splicing

21.0

-

Ruzzo2019 G

MADD

AU4173301

chr11:
47346884-47346884

C

T

intronic

De novo

-

Yuen2017 G

MADD

3486_17au

chr11:
47304121-47304121

A

G

exonic

De novo

synonymous SNV

NM_001135943
NM_001135944
NM_003682
NM_130470
NM_130471
NM_130472
NM_130473
NM_130474
NM_130475
NM_130476

c.A1659G
c.A1659G
c.A1659G
c.A1659G
c.A1659G
c.A1659G
c.A1659G
c.A1659G
c.A1659G
c.A1659G

p.E553E
p.E553E
p.E553E
p.E553E
p.E553E
p.E553E
p.E553E
p.E553E
p.E553E
p.E553E

-

Fu2022 E

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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