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Results for "GANC"

Variant Events: 16

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     08C78222chr15:
42631878-42631878
GAexonicDe novononsynonymous SNVNM_198141c.G1855Ap.G619R27.02.492E-5Lim2017 E
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     1-0402-004chr15:
42624427-42624427
AGintronicDe novo--Yuen2017 G
GANC     AU2975301chr15:
42649335-42649335
CTintergenicDe novo--Yuen2017 G
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-Satterstrom2020 E
GANC     2-0028-003chr15:
42638604-42638604
TGintronicDe novo--Yuen2017 G
GANC     PN400108chr15:
42579949-42579949
GAexonicInheritednonsynonymous SNVNM_198141
NM_001301409
c.G262A
c.G262A
p.E88K
p.E88K
33.00.0087Leblond2019 E
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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