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Results for "CACNA1E"

Variant Events: 42

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
CACNA1E     Codina-Sola2015:ASD_13chr1:
181706695-181706695
CTexonicPaternalnonsynonymous SNVNM_001205294
NM_000721
NM_001205293
c.C3400T
c.C3457T
c.C3457T
p.R1134C
p.R1153C
p.R1153C
23.49.124E-5Codina-Sola2015 E
CACNA1E     1-0305-004chr1:
181747987-181747987
GAintronicDe novo--Yuen2017 G
CACNA1E     1-0404-003chr1:
181995253-181995253
CTintergenicDe novo--Yuen2017 G
CACNA1E     AU1542303chr1:
181607007-181607007
AGintronicDe novo--Yuen2017 G
CACNA1E     3C577chr1:
181549895-181549895
AGexonicDe novononsynonymous SNVNM_000721
NM_001205293
NM_001205294
c.A934G
c.A934G
c.A934G
p.T312A
p.T312A
p.T312A
20.4-Satterstrom2020 E
CACNA1E     AU03604chr1:
181721285-181721285
CTexonicDe novosynonymous SNVNM_001205294
NM_000721
NM_001205293
c.C3681T
c.C3738T
c.C3738T
p.N1227N
p.N1246N
p.N1246N
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
CACNA1E     2-1461-003chr1:
182013996-182013996
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
CACNA1E     PN400343chr1:
181762910-181762910
GAexonicUnknownnonsynonymous SNVNM_001205293c.G6008Ap.R2003H32.00.0012Leblond2019 E
CACNA1E     2-1508-003chr1:
182017170-182017170
GTintergenicDe novo--Yuen2017 G
CACNA1E     5-0103-003chr1:
181602528-181602528
TCintronicDe novo--Yuen2017 G
CACNA1E     Chen2017:69chr1:
181686288-181686288
CTexonicDe novononsynonymous SNVNM_000721
NM_001205293
NM_001205294
c.C1375T
c.C1375T
c.C1375T
p.R459W
p.R459W
p.R459W
25.7-Chen2017 E
CACNA1E     1-0246-005chr1:
181914704-181914704
TCintergenicDe novo--Yuen2017 G
CACNA1E     AU031204chr1:
181822883-181822883
AGintergenicDe novo--Yuen2017 G
CACNA1E     1-0004-003chr1:
181465393-181465393
AGintronicDe novo--Yuen2017 G
CACNA1E     AU3913303chr1:
181954941-181954941
CTintergenicDe novo--Yuen2017 G
CACNA1E     Lim2017:5898chr1:
181708295-181708295
GAexonicDe novononsynonymous SNVNM_001205294
NM_000721
NM_001205293
c.G3568A
c.G3625A
c.G3625A
p.G1190S
p.G1209S
p.G1209S
35.0-Lim2017 E
CACNA1E     2-0003-003chr1:
181747825-181747825
GGTAAGATAGCintronicDe novo--Yuen2017 G
CACNA1E     5-0138-003chr1:
181852697-181852697
CTintergenicDe novo--Yuen2017 G
CACNA1E     AU2123301chr1:
181810449-181810470
GTTTTTGTTTTTTGTTTTTTGTGTTTTTGTTTTTTGTintergenicDe novo--Yuen2017 G
CACNA1E     14482.p1chr1:
181631339-181631339
GTintronicDe novo--Turner2016 G
CACNA1E     3-0391-000chr1:
181957476-181957477
AGAintergenicDe novo--Yuen2017 G
CACNA1E     13152.p1chr1:
181701777-181701777
GCexonicDe novononsynonymous SNVNM_001205294
NM_000721
NM_001205293
c.G2498C
c.G2555C
c.G2555C
p.R833P
p.R852P
p.R852P
14.03-Satterstrom2020 E
CACNA1E     1-0552-003chr1:
181818424-181818424
TCintergenicDe novo--Yuen2017 G
CACNA1E     7-0102-003chr1:
181613993-181613993
AGintronicDe novo--Yuen2017 G
CACNA1E     2-0214-004chr1:
181466114-181466114
GCintronicDe novo--Yuen2017 G
CACNA1E     AU3787302chr1:
181931767-181931767
ACintergenicDe novo--Yuen2017 G
CACNA1E     1-0559-004chr1:
181605288-181605288
AGintronicDe novo--Yuen2017 G
CACNA1E     AU3794302chr1:
181731079-181731079
GAintronicDe novo--Yuen2017 G
CACNA1E     2-0219-004chr1:
181736880-181736880
GAintronicDe novo--Yuen2017 G
CACNA1E     244-07-108352chr1:
181705570-181705570
CTexonicDe novononsynonymous SNVNM_001205294
NM_000721
NM_001205293
c.C3365T
c.C3422T
c.C3422T
p.P1122L
p.P1141L
p.P1141L
16.37-Satterstrom2020 E
CACNA1E     1-0092-003chr1:
181730943-181730943
CTintronicDe novo--Yuen2017 G
CACNA1E     200675515@1082034250chr1:
181686288-181686288
CTexonicDe novononsynonymous SNVNM_000721
NM_001205293
NM_001205294
c.C1375T
c.C1375T
c.C1375T
p.R459W
p.R459W
p.R459W
25.7-Satterstrom2020 E
CACNA1E     AU4243302chr1:
181659727-181659727
ACintronicDe novo--Yuen2017 G
CACNA1E     Mahjani2021:13chr1:
181480610-181480610
GAexonicnonsynonymous SNVNM_000721
NM_001205293
NM_001205294
c.G476A
c.G476A
c.G476A
p.G159D
p.G159D
p.G159D
27.9-Mahjani2021 E
CACNA1E     AU011903chr1:
181626329-181626329
AGintronicDe novo--Yuen2017 G
CACNA1E     2-0012-003chr1:
181769013-181769020
CCTCCTGGCUTR3De novo--Yuen2017 G
CACNA1E     2-0145-003chr1:
181651111-181651113
CTGCintronicDe novo--Yuen2017 G
CACNA1E     2-1529-003chr1:
181711989-181711989
GAintronicDe novo--Yuen2017 G
CACNA1E     11773.p1chr1:
181708295-181708295
GAexonicDe novononsynonymous SNVNM_001205294
NM_000721
NM_001205293
c.G3568A
c.G3625A
c.G3625A
p.G1190S
p.G1209S
p.G1209S
35.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
CACNA1E     AU3343301chr1:
181958828-181958828
TCintergenicDe novo--Yuen2017 G
CACNA1E     Mahjani2021:16chr1:
181735745-181735745
CTexonicstopgainNM_001205294
NM_000721
NM_001205293
c.C4822T
c.C4879T
c.C4879T
p.Q1608X
p.Q1627X
p.Q1627X
52.0-Mahjani2021 E
CACNA1E     2-0145-004chr1:
181651111-181651113
CTGCintronicDe 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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