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Results for "MADD"

Variant Events: 9

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     iHART1286chr11:
47295525-47295529
CAGGTCexonicPaternalframeshift deletionNM_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-6Ruzzo2019 G
MADD     SP0034419chr11:
47305961-47305961
GAexonicDe novononsynonymous SNVNM_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
MADD     12015.p1chr11:
47317586-47317586
TCexonicDe novononsynonymous SNVNM_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
13.465.77E-5Satterstrom2020 E
MADD     iHART2931chr11:
47307000-47307000
AGsplicingMaternalsplicing21.0-Ruzzo2019 G
MADD     iHART2932chr11:
47307000-47307000
AGsplicingMaternalsplicing21.0-Ruzzo2019 G
MADD     11437.p1chr11:
47304002-47304002
CTexonicDe novononsynonymous SNVNM_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     AU4173301chr11:
47346884-47346884
CTintronicDe novo--Yuen2017 G
MADD     SSC00332chr11:
47304002-47304002
CTexonicDe novononsynonymous SNVNM_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-Lim2017 E
MADD     1-0835-003chr11:
47295814-47295814
AGintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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