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Results for "CACNB2"

Variant Events: 27

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     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     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     AU4286302chr10:
18547447-18547447
GAintronicDe novo--Yuen2017 G
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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