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Results for "CACNB2"

Variant Events: 33

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
CACNB2     PN400523chr10:
18789874-18789874		CTexonicUnknownnonsynonymous SNVNM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597		c.C425T
c.C446T
c.C428T
c.C506T
c.C506T
c.C506T
c.C590T
c.C590T
c.C590T		p.S142F
p.S149F
p.S143F
p.S169F
p.S169F
p.S169F
p.S197F
p.S197F
p.S197F		32.05.0E-4Leblond2019 E
CACNB2     1-0112-004chr10:
18599261-18599261		GAintronicDe novo--Yuen2017 G
CACNB2     SP0009621chr10:
18429554-18429554		CTupstreamDe novo--Fu2022 E
CACNB2     2-1422-003chr10:
18567088-18567088		CTintronicDe novo--Yuen2017 G
CACNB2     PN400178chr10:
18439900-18439900		GAexonicUnknownnonsynonymous SNVNM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597		c.G125A
c.G125A
c.G125A
c.G209A
c.G209A
c.G209A		p.R42H
p.R42H
p.R42H
p.R70H
p.R70H
p.R70H		20.29.0E-4Leblond2019 E
CACNB2     2-0142-003chr10:
18501636-18501636		CAintronicDe novo--Yuen2017 G
CACNB2     AU031004chr10:
18771494-18771494		TGintronicDe novo--Yuen2017 G
CACNB2     5-0018-003chr10:
18815883-18815885		TCATintronicDe novo--Yuen2017 G
CACNB2     AU1521301chr10:
18629052-18629052		GAintronicDe novo--Yuen2017 G
CACNB2     PN400190chr10:
18439900-18439900		GAexonicUnknownnonsynonymous SNVNM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597		c.G125A
c.G125A
c.G125A
c.G209A
c.G209A
c.G209A		p.R42H
p.R42H
p.R42H
p.R70H
p.R70H
p.R70H		20.29.0E-4Leblond2019 E
CACNB2     1-0068-003chr10:
18733304-18733304		TCintronicDe novo--Yuen2017 G
CACNB2     2-1297-003chr10:
18752517-18752517		TTTGintronicDe novo--Yuen2017 G
CACNB2     2-1741-003chr10:
18698105-18698105		GCintronicDe novo--Yuen2017 G
CACNB2     2-1066-003chr10:
18545734-18545734		GAintronicDe novo--Yuen2017 G
CACNB2     3-0437-000chr10:
18552526-18552526		TCintronicDe novo--Yuen2016 G
CACNB2     2-1330-003chr10:
18583153-18583153		CTintronicDe novo--Yuen2016 G
Yuen2017 G
CACNB2     PN400524chr10:
18789874-18789874		CTexonicUnknownnonsynonymous SNVNM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597		c.C425T
c.C446T
c.C428T
c.C506T
c.C506T
c.C506T
c.C590T
c.C590T
c.C590T		p.S142F
p.S149F
p.S143F
p.S169F
p.S169F
p.S169F
p.S197F
p.S197F
p.S197F		32.05.0E-4Leblond2019 E
CACNB2     1-0627-007chr10:
18724357-18724357		CTintronicDe novo--Yuen2017 G
CACNB2     PN400521chr10:
18789874-18789874		CTexonicUnknownnonsynonymous SNVNM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597		c.C425T
c.C446T
c.C428T
c.C506T
c.C506T
c.C506T
c.C590T
c.C590T
c.C590T		p.S142F
p.S149F
p.S143F
p.S169F
p.S169F
p.S169F
p.S197F
p.S197F
p.S197F		32.05.0E-4Leblond2019 E
CACNB2     1-0299-003chr10:
18471031-18471031		CAintronicDe novo--Yuen2017 G
CACNB2     AU3730301chr10:
18613708-18613708		CTintronicDe novo--Yuen2017 G
CACNB2     Viggiano2022:103.3chr10:
18803206-18803206		GCexonicMaternalnonsynonymous SNVNM_000724
NM_201570
NM_201590
NM_201571
NM_201596		c.G547C
c.G568C
c.G550C
c.G628C
c.G712C		p.D183H
p.D190H
p.D184H
p.D210H
p.D238H		23.2-Viggiano2022 GT
CACNB2     Viggiano2022:109.3chr10:
18827163-18827163		CTexonicMaternalnonsynonymous SNVNM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597		c.C1192T
c.C1213T
c.C1195T
c.C1159T
c.C1273T
c.C1201T
c.C1243T
c.C1357T
c.C1285T		p.L398F
p.L405F
p.L399F
p.L387F
p.L425F
p.L401F
p.L415F
p.L453F
p.L429F		22.22.0E-4Viggiano2022 GT
CACNB2     Viggiano2022:109.3chr10:
18803444-18803444		GTexonicMaternalnonsynonymous SNVNM_001167945
NM_201593		c.G591T
c.G675T		p.K197N
p.K225N		13.482.0E-4Viggiano2022 GT
CACNB2     2-0223-003chr10:
18429670-18429670		TAexonicDe novononsynonymous SNVNM_201593
NM_201596
NM_201597		c.T5A
c.T5A
c.T5A		p.V2D
p.V2D
p.V2D		9.248-Yuen2015 G
Yuen2017 G
CACNB2     AU2427303chr10:
18793634-18793634		CTintronicDe novo--Yuen2017 G
CACNB2     Viggiano2022:56.3chr10:
18828487-18828487		GCexonicPaternalnonsynonymous SNVNM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597		c.G1652C
c.G1673C
c.G1655C
c.G1619C
c.G1733C
c.G1661C
c.G1703C
c.G1817C
c.G1745C		p.R551P
p.R558P
p.R552P
p.R540P
p.R578P
p.R554P
p.R568P
p.R606P
p.R582P		15.912.0E-4Viggiano2022 GT
CACNB2     AU4286302chr10:
18547447-18547447		GAintronicDe novo--Yuen2017 G
CACNB2     SP0019174chr10:
18550257-18550257		AGintronicDe novo-4.804E-5Fu2022 E
CACNB2     PN400157chr10:
18439900-18439900		GAexonicUnknownnonsynonymous SNVNM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597		c.G125A
c.G125A
c.G125A
c.G209A
c.G209A
c.G209A		p.R42H
p.R42H
p.R42H
p.R70H
p.R70H
p.R70H		20.29.0E-4Leblond2019 E
CACNB2     PN400113chr10:
18439900-18439900		GAexonicUnknownnonsynonymous SNVNM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597		c.G125A
c.G125A
c.G125A
c.G209A
c.G209A
c.G209A		p.R42H
p.R42H
p.R42H
p.R70H
p.R70H
p.R70H		20.29.0E-4Leblond2019 E
CACNB2     PN400412chr10:
18789874-18789874		CTexonicUnknownnonsynonymous SNVNM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597		c.C425T
c.C446T
c.C428T
c.C506T
c.C506T
c.C506T
c.C590T
c.C590T
c.C590T		p.S142F
p.S149F
p.S143F
p.S169F
p.S169F
p.S169F
p.S197F
p.S197F
p.S197F		32.05.0E-4Leblond2019 E
CACNB2     2-0090-003chr10:
18584596-18584596		ACintronicDe 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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