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Results for "CACNA2D4"

Variant Events: 25

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
CACNA2D4     iHART2671chr12:
1994049-1994049		TCsplicingMaternalsplicing19.62-Ruzzo2019 G
CACNA2D4     AU1933302chr12:
2031983-2031983		CTintergenicDe novo--Yuen2017 G
CACNA2D4     Shi2013:2chr12:
1967743-1967743		CTexonicInheritednonsynonymous SNVNM_172364c.G2008Ap.G670S26.89.152E-5Shi2013 G
CACNA2D4     AU4159301chr12:
1943157-1943157		GAintronicDe novo--Yuen2017 G
CACNA2D4     Shi2013:1chr12:
1967743-1967743		CTexonicInheritednonsynonymous SNVNM_172364c.G2008Ap.G670S26.89.152E-5Shi2013 G
CACNA2D4     AU4433301chr12:
1965532-1965532		TGintronicDe novo--Yuen2017 G
CACNA2D4     2-0145-003chr12:
1998214-1998214		AGintronicDe novo--Yuen2017 G
CACNA2D4     2-0223-004chr12:
1960326-1960326		GAintronicDe novo--Yuen2017 G
CACNA2D4     528666869449-Cchr12:
1937493-1937493		CTintronicDe novo--Fu2022 E
CACNA2D4     SP0017223chr12:
1909227-1909227		CTintronicDe novo--Fu2022 E
CACNA2D4     SP0014443chr12:
2016610-2016610		AGexonicDe novosynonymous SNVNM_172364c.T777Cp.Y259Y-8.406E-6Fu2022 E
CACNA2D4     SP0046573chr12:
2022173-2022173		CGintronicDe novo--Fu2022 E
CACNA2D4     SP0127239chr12:
1992199-1992199		GGCAGGGCTTCCCTGGGAACCCCTCGCintronicDe novo--Fu2022 E
CACNA2D4     929_15auchr12:
1920881-1920881		CTexonicDe novononsynonymous SNVNM_172364c.G2560Ap.V854I0.0694.403E-5Fu2022 E
CACNA2D4     2-1384-003chr12:
1918479-1918479		GAintronicDe novo--Yuen2017 G
CACNA2D4     Viggiano2022:22.3chr12:
1995390-1995390		GAexonicPaternalnonsynonymous SNVNM_172364c.C992Tp.A331V32.0-Viggiano2022 GT
CACNA2D4     Viggiano2022:99.4chr12:
1984464-1984464		TCexonicMaternalnonsynonymous SNVNM_172364c.A1759Gp.N587D29.82.484E-5Viggiano2022 GT
CACNA2D4     Viggiano2022:60.3chr12:
2022191-2022191		GAexonicPaternalstopgainNM_172364c.C424Tp.Q142X18.28.643E-6Viggiano2022 GT
CACNA2D4     AU056804chr12:
2026540-2026540		CTintronicDe novo--Yuen2017 G
CACNA2D4     Viggiano2022:22.4chr12:
1995390-1995390		GAexonicPaternalnonsynonymous SNVNM_172364c.C992Tp.A331V32.0-Viggiano2022 GT
CACNA2D4     Viggiano2022:22.3chr12:
1902919-1902919		CTexonicPaternalnonsynonymous SNVNM_172364c.G3316Ap.A1106T26.9-Viggiano2022 GT
CACNA2D4     SP0117834chr12:
1967735-1967735		CTintronicDe novo--Fu2022 E
CACNA2D4     Viggiano2022:12.5chr12:
1963193-1963193		GAexonicPaternalnonsynonymous SNVNM_172364c.C2170Tp.R724W28.02.0E-4Viggiano2022 GT
CACNA2D4     Viggiano2022:22.4chr12:
1902919-1902919		CTexonicPaternalnonsynonymous SNVNM_172364c.G3316Ap.A1106T26.9-Viggiano2022 GT
CACNA2D4     1-0059-003chr12:
1913230-1913230		TCintronicDe 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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