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Results for "GDAP2"

Variant Events: 23

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
GDAP2     TRE_2107chr1:
118455254-118455254
CTexonicDe novononsynonymous SNVNM_001135589
NM_017686
c.G368A
c.G368A
p.R123Q
p.R123Q
37.01.649E-5Fu2022 E
GDAP2     1-0231-004chr1:
118420734-118420734
ATexonicDe novononsynonymous SNVNM_001135589
NM_017686
c.T1343A
c.T1343A
p.L448Q
p.L448Q
25.6-Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE
GDAP2     1-0246-005chr1:
118463038-118463038
GAUTR5De novo--Trost2022 G
Yuen2017 G
GDAP2     AU4315302chr1:
118454531-118454531
GTintronicDe novo--Trost2022 G
Yuen2017 G
GDAP2     2-1493-003chr1:
118443243-118443243
CTintronicDe novo--Trost2022 G
GDAP2     5-0129-003chr1:
118448253-118448253
GCintronicDe novo--Trost2022 G
Yuen2017 G
GDAP2     1-0845-003chr1:
118435671-118435671
TAintronicDe novo--Trost2022 G
GDAP2     1-0606-003chr1:
118410077-118410077
GAUTR3De novo--Trost2022 G
Yuen2017 G
GDAP2     MSSNG00004-004chr1:
118452446-118452446
GAintronicDe novo--Trost2022 G
GDAP2     Chen2017:1chr1:
118426130-118426130
GAexonicDe novosynonymous SNVNM_001135589
NM_017686
c.C1227T
c.C1227T
p.L409L
p.L409L
--Chen2017 E
GDAP2     1-0863-003chr1:
118431874-118431874
GAintronicDe novo--Trost2022 G
Yuen2017 G
GDAP2     3-0782-000chr1:
118447736-118447736
CTintronicDe novo--Trost2022 G
GDAP2     mAGRE5486chr1:
118441718-118441718
GAexonicMaternalstopgainNM_001135589
NM_017686
c.C757T
c.C757T
p.R253X
p.R253X
38.02.471E-5Cirnigliaro2023 G
GDAP2     mAGRE5393chr1:
118439462-118439462
GAexonicMaternalstopgainNM_001135589
NM_017686
c.C946T
c.C946T
p.Q316X
p.Q316X
37.08.396E-5Cirnigliaro2023 G
GDAP2     1-0495-003chr1:
118458824-118458824
GAintronicDe novo--Trost2022 G
Yuen2017 G
GDAP2     mAGRE4162chr1:
118439462-118439462
GAexonicMaternalstopgainNM_001135589
NM_017686
c.C946T
c.C946T
p.Q316X
p.Q316X
37.08.396E-5Cirnigliaro2023 G
GDAP2     1-1196-003chr1:
118431266-118431267
GAGintronicDe novo--Trost2022 G
GDAP2     mAGRE5961chr1:
118424468-118424469
CACexonicPaternalframeshift deletionNM_001135589
NM_017686
c.1278delT
c.1278delT
p.F426fs
p.F426fs
--Cirnigliaro2023 G
GDAP2     3-0089-000chr1:
118428298-118428298
GAintronicDe novo--Trost2022 G
GDAP2     mAGRE5960chr1:
118424468-118424469
CACexonicPaternalframeshift deletionNM_001135589
NM_017686
c.1278delT
c.1278delT
p.F426fs
p.F426fs
--Cirnigliaro2023 G
GDAP2     MSSNG00349-003chr1:
118469523-118469523
ACintronicDe novo--Trost2022 G
GDAP2     1-0625-003chr1:
118471090-118471090
CAintronicDe novo--Trost2022 G
Yuen2017 G
GDAP2     AU1860302 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
Source Variant Information

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Paper alias:

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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
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