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Results for "GANC"

Variant Events: 37

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
GANC     AU045010chr15:
42585591-42585591		GAintronicDe novo--Yuen2017 G
GANC     iHART1443chr15:
42602479-42602479		AGsplicingMaternalsplicing19.833.375E-5Ruzzo2019 G
GANC     iHART2458chr15:
42600418-42600418		AGsplicingMaternalsplicing12.196.6E-5Ruzzo2019 G
GANC     11959.p1chr15:
42635365-42635365		ACintronicDe novo-1.666E-5Satterstrom2020 E
GANC     12015.p1chr15:
42635365-42635365		ACintronicDe novo-1.666E-5Satterstrom2020 E
GANC     7-0035-003chr15:
42592605-42592605		AGintronicDe novo--Yuen2017 G
GANC     iHART2274chr15:
42618611-42618612		TGTexonicPaternalframeshift deletionNM_198141c.1410delGp.V470fs-1.647E-5Ruzzo2019 G
GANC     iHART2272chr15:
42618611-42618612		TGTexonicPaternalframeshift deletionNM_198141c.1410delGp.V470fs-1.647E-5Ruzzo2019 G
GANC     iHART2934chr15:
42640309-42640309		GGTexonicMaternalframeshift insertionNM_198141c.2314dupTp.V771fs-1.663E-5Ruzzo2019 G
GANC     DEASD_0148_001chr15:
42632946-42632946		AGexonicDe novononsynonymous SNVNM_198141c.A2146Gp.M716V19.39-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GANC     2-0028-003chr15:
42638604-42638604		TGintronicDe novo--Trost2022 G
Yuen2017 G
GANC     08C78222chr15:
42631878-42631878		GAexonicDe novononsynonymous SNVNM_198141c.G1855Ap.G619R27.02.492E-5Lim2017 E
GANC     mAGRE5473chr15:
42600489-42600489		CCAGAATexonicPaternalframeshift insertionNM_198141
NM_001301409		c.695_696insAGAAT
c.695_696insAGAAT		p.A232fs
p.A232fs		-4.12E-5Cirnigliaro2023 G
GANC     7-0419-003chr15:
42583113-42583113		AGintronicDe novo--Trost2022 G
GANC     mAGRE2458chr15:
42600418-42600418		AGsplicingMaternalsplicing12.196.6E-5Cirnigliaro2023 G
GANC     AU2792301chr15:
42598810-42598812		GGTGsplicingPaternalsplicing-8.721E-5Cirnigliaro2023 G
GANC     AU1894303chr15:
42598779-42598780		ATAexonicMaternalframeshift deletionNM_198141
NM_001301409		c.595delT
c.595delT		p.F199fs
p.F199fs		-2.516E-5Cirnigliaro2023 G
GANC     1-0402-004chr15:
42624427-42624427		AGintronicDe novo--Trost2022 G
Yuen2017 G
GANC     AU2975301chr15:
42649335-42649335		CTintergenicDe novo--Yuen2017 G
GANC     5901chr15:
42635365-42635365		ACintronicDe novo-1.666E-5Trost2022 G
GANC     5908chr15:
42635365-42635365		ACintronicDe novo-1.666E-5Trost2022 G
GANC     4-0062-003chr15:
42612810-42612810		ACintronicDe novo--Trost2022 G
GANC     mAGRE2934chr15:
42640309-42640309		GGTexonicMaternalframeshift insertionNM_198141c.2314dupTp.V771fs-1.663E-5Cirnigliaro2023 G
GANC     REACH000380chr15:
42618790-42618790		ATintronicDe novo--Trost2022 G
GANC     mAGRE2731chr15:
42632062-42632062		GAexonicMaternalstopgainNM_198141c.G2039Ap.W680X40.01.0E-4Cirnigliaro2023 G
GANC     4-0062-003chr15:
42612804-42612804		AGintronicDe novo--Trost2022 G
GANC     mAGRE2730chr15:
42632062-42632062		GAexonicMaternalstopgainNM_198141c.G2039Ap.W680X40.01.0E-4Cirnigliaro2023 G
GANC     SP0140723chr15:
42644262-42644262		TCexonicsynonymous SNVNM_198141c.T2670Cp.C890C--Zhou2022 GE
GANC     4-0062-003chr15:
42612807-42612807		TCintronicDe novo--Trost2022 G
GANC     mAGRE2274chr15:
42618611-42618612		TGTexonicPaternalframeshift deletionNM_198141c.1410delGp.V470fs-1.647E-5Cirnigliaro2023 G
GANC     MSSNG00336-004chr15:
42592262-42592262		CTintronicDe novo--Trost2022 G
GANC     mAGRE2272chr15:
42618611-42618612		TGTexonicPaternalframeshift deletionNM_198141c.1410delGp.V470fs-1.647E-5Cirnigliaro2023 G
GANC     4-0062-003chr15:
42612801-42612801		CTintronicDe novo--Trost2022 G
GANC     mAGRE1443chr15:
42602479-42602479		AGsplicingMaternalsplicing19.833.375E-5Cirnigliaro2023 G
GANC     PN400108chr15:
42579949-42579949		GAexonicInheritednonsynonymous SNVNM_198141
NM_001301409		c.G262A
c.G262A		p.E88K
p.E88K		33.00.0087Leblond2019 E
GANC     MSSNG00354-004chr15:
42639538-42639538		GAintronicDe novo--Trost2022 G
GANC     PN400171chr15:
42579949-42579949		GAexonicInheritednonsynonymous SNVNM_198141
NM_001301409		c.G262A
c.G262A		p.E88K
p.E88K		33.00.0087Leblond2019 E
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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