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Results for "KCNMA1"

Variant Events: 55

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
KCNMA1     Lim2017:5007chr10:
78761230-78761230
GTexonicDe novononsynonymous SNVNM_001161352c.C2201Ap.T734N13.47-Lim2017 E
KCNMA1     3-0185-000chr10:
79500949-79500949
TGintergenicDe novo--Yuen2017 G
KCNMA1     AU4462302chr10:
78923943-78923943
GAintronicDe novo--Yuen2017 G
KCNMA1     1-0051-004chr10:
79334520-79334522
CATCintronicDe novo--Yuen2017 G
KCNMA1     2-1605-004chr10:
79264978-79264978
CGintronicDe novo--Yuen2017 G
KCNMA1     5-0040-003chr10:
78986191-78986191
GAintronicDe novo--Yuen2017 G
KCNMA1     AU1995302chr10:
79321477-79321477
TCintronicDe novo--Yuen2017 G
KCNMA1     AU4032305chr10:
79043681-79043681
CTintronicDe novo--Yuen2017 G
KCNMA1     1-0402-004chr10:
79001094-79001094
ACintronicDe novo--Yuen2017 G
KCNMA1     1-0552-003chr10:
79271196-79271196
TCintronicDe novo--Yuen2017 G
KCNMA1     1-0344-003chr10:
78773877-78773877
GTintronicDe novo--Yuen2017 G
KCNMA1     2-1411-003chr10:
79064240-79064240
CTintronicDe novo--Yuen2017 G
KCNMA1     08C74467chr10:
78669774-78669774
CGexonicDe novononsynonymous SNVNM_001271518
NM_002247
NM_001014797
NM_001161352
NM_001161353
NM_001271519
c.G2773C
c.G2923C
c.G2935C
c.G3097C
c.G3046C
c.G3013C
p.A925P
p.A975P
p.A979P
p.A1033P
p.A1016P
p.A1005P
33.0-Satterstrom2020 E
KCNMA1     AU4145301chr10:
79073625-79073625
AGintronicDe novo--Yuen2017 G
KCNMA1     2-1265-003chr10:
79394764-79394764
TAintronicDe novo--Yuen2017 G
KCNMA1     1-0206-003chr10:
79309033-79309033
GAintronicDe novo--Yuen2017 G
KCNMA1     2-0142-004chr10:
79280059-79280059
AAGGTCTGintronicDe novo--Yuen2017 G
KCNMA1     7-0135-003chr10:
79273021-79273021
CAintronicDe novo--Yuen2017 G
KCNMA1     2-0202-003chr10:
78973315-78973315
GAintronicDe novo--Yuen2017 G
KCNMA1     7-0135-003chr10:
79273838-79273838
GAintronicDe novo--Yuen2017 G
KCNMA1     5-0033-004chr10:
79056674-79056674
GGTintronicDe novo--Yuen2017 G
KCNMA1     AU036203chr10:
78704706-78704706
CTexonicDe novosynonymous SNVNM_001271518
NM_002247
NM_001014797
NM_001161352
NM_001161353
NM_001271519
c.G2403A
c.G2553A
c.G2565A
c.G2727A
c.G2676A
c.G2562A
p.R801R
p.R851R
p.R855R
p.R909R
p.R892R
p.R854R
6.987-Yuen2017 G
KCNMA1     1-0751-003chr10:
79387727-79387727
AGintronicDe novo--Yuen2017 G
KCNMA1     AU3680302chr10:
78878331-78878331
TCintronicDe novo--Yuen2017 G
KCNMA1     2-1348-003chr10:
79316666-79316666
CTintronicDe novo--Yuen2017 G
KCNMA1     AU4072303chr10:
78866545-78866545
GTintronicDe novo--Yuen2017 G
KCNMA1     AU3862305chr10:
78898665-78898665
GAintronicDe novo--Yuen2017 G
KCNMA1     1-0193-003chr10:
79530120-79530120
CAintergenicDe novo--Yuen2017 G
KCNMA1     A14chr10:
79246463-79246463
GAintronicDe novo--Wu2018 G
KCNMA1     AU076508chr10:
78987813-78987813
CTintronicDe novo--Yuen2017 G
KCNMA1     20-0517250-22chr10:
78832998-78832998
TGexonicDe novononsynonymous SNVNM_001271518
NM_001014797
NM_001161352
NM_001161353
NM_001271519
NM_002247
c.A1444C
c.A1606C
c.A1606C
c.A1606C
c.A1606C
c.A1606C
p.N482H
p.N536H
p.N536H
p.N536H
p.N536H
p.N536H
20.7-Satterstrom2020 E
KCNMA1     1-0075-003chr10:
79448925-79448925
CTintergenicDe novo--Yuen2017 G
KCNMA1     2-0318-004chr10:
79307301-79307301
CTintronicDe novo--Yuen2017 G
KCNMA1     AU3811305chr10:
79327122-79327122
TCintronicDe novo--Yuen2017 G
KCNMA1     1-0433-004chr10:
79298849-79298849
CTintronicDe novo--Yuen2017 G
KCNMA1     7-0133-003chr10:
79466274-79466274
AGintergenicDe novo--Yuen2017 G
KCNMA1     7-0141-003chr10:
79540724-79540724
GAintergenicDe novo--Yuen2017 G
KCNMA1     2-1475-003chr10:
79318987-79318987
GAintronicDe novo--Yuen2017 G
KCNMA1     1-0487-003chr10:
78859810-78859810
AGintronicDe novo--Yuen2016 G
Yuen2017 G
KCNMA1     2-1105-003chr10:
79179317-79179317
ATintronicDe novo--Yuen2016 G
Yuen2017 G
KCNMA1     2-0018-004chr10:
78846339-78846339
GAexonicDe novosynonymous SNVNM_001271518
NM_001014797
NM_001161352
NM_001161353
NM_001271519
NM_002247
c.C1185T
c.C1347T
c.C1347T
c.C1347T
c.C1347T
c.C1347T
p.N395N
p.N449N
p.N449N
p.N449N
p.N449N
p.N449N
8.978-Yuen2015 G
Yuen2017 G
KCNMA1     AU4012302chr10:
78863200-78863200
TCintronicDe novo--Yuen2017 G
KCNMA1     200675470@1082034721chr10:
78943225-78943225
CTexonicDe novosynonymous SNVNM_001271518
NM_001014797
NM_001161352
NM_001161353
NM_001271519
NM_002247
c.G600A
c.G762A
c.G762A
c.G762A
c.G762A
c.G762A
p.T200T
p.T254T
p.T254T
p.T254T
p.T254T
p.T254T
6.9441.662E-5Satterstrom2020 E
KCNMA1     1-0757-003chr10:
78981966-78981966
GAintronicDe novo--Yuen2017 G
KCNMA1     AU3190305chr10:
79309415-79309415
CTintronicDe novo--Yuen2017 G
KCNMA1     13008.p1chr10:
78761230-78761230
GTexonicDe novononsynonymous SNVNM_001161352c.C2201Ap.T734N13.47-Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
KCNMA1     09C90312chr10:
78943225-78943225
CTexonicDe novosynonymous SNVNM_001271518
NM_001014797
NM_001161352
NM_001161353
NM_001271519
NM_002247
c.G600A
c.G762A
c.G762A
c.G762A
c.G762A
c.G762A
p.T200T
p.T254T
p.T254T
p.T254T
p.T254T
p.T254T
6.9441.662E-5Neale2012 E
KCNMA1     AU054303chr10:
78783899-78783899
ATintronicDe novo--Yuen2017 G
KCNMA1     AU054303chr10:
78786037-78786037
CTintronicDe novo--Yuen2017 G
KCNMA1     AU054303chr10:
78786039-78786039
AGintronicDe novo--Yuen2017 G
KCNMA1     10C105879chr10:
78869948-78869948
ACexonicDe novononsynonymous SNVNM_001271518
NM_001014797
NM_001161352
NM_001161353
NM_001271519
NM_002247
c.T952G
c.T1114G
c.T1114G
c.T1114G
c.T1114G
c.T1114G
p.F318V
p.F372V
p.F372V
p.F372V
p.F372V
p.F372V
23.7-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
KCNMA1     1-0104-004chr10:
79422328-79422328
CTintergenicDe novo--Yuen2017 G
KCNMA1     1255JS0019chr10:
78943225-78943225
CTexonicDe novosynonymous SNVNM_001271518
NM_001014797
NM_001161352
NM_001161353
NM_001271519
NM_002247
c.G600A
c.G762A
c.G762A
c.G762A
c.G762A
c.G762A
p.T200T
p.T254T
p.T254T
p.T254T
p.T254T
p.T254T
6.9441.662E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
KCNMA1     AU4485302chr10:
78891225-78891225
GAintronicDe novo--Yuen2017 G
KCNMA1     Mahjani2021:18chr10:
78647253-78647253
GCexonicnonsynonymous SNVNM_001271518
NM_002247
NM_001014797
NM_001161352
NM_001161353
NM_001271519
c.C3158G
c.C3308G
c.C3320G
c.C3482G
c.C3431G
c.C3398G
p.P1053R
p.P1103R
p.P1107R
p.P1161R
p.P1144R
p.P1133R
19.16-Mahjani2021 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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