Variant Results

or

Results for "KCNMA1"

Variant Events: 63

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

Lim2017:5007

chr10:
78761230-78761230

G

T

exonic

De novo

nonsynonymous SNV

NM_001161352

c.C2201A

p.T734N

13.47

-

Lim2017 E

KCNMA1

3-0185-000

chr10:
79500949-79500949

T

G

intergenic

De novo

-

Yuen2017 G

KCNMA1

AU4462302

chr10:
78923943-78923943

G

A

intronic

De novo

-

Yuen2017 G

KCNMA1

1-0051-004

chr10:
79334520-79334522

CAT

C

intronic

De novo

-

Yuen2017 G

KCNMA1

5007

chr10:
78761230-78761230

G

T

exonic

De novo

nonsynonymous SNV

NM_001161352

c.C2201A

p.T734N

13.47

-

Fu2022 E

KCNMA1

2-1605-004

chr10:
79264978-79264978

C

G

intronic

De novo

-

Yuen2017 G

KCNMA1

EX11A

chr10:
79163646-79163646

C

T

exonic

De novo

nonsynonymous SNV

NM_001014797
NM_001161352
NM_001161353
NM_001271519
NM_002247

c.G514A
c.G514A
c.G514A
c.G514A
c.G514A

p.A172T
p.A172T
p.A172T
p.A172T
p.A172T

35.0

-

Fu2022 E

KCNMA1

200675470_1082034721

chr10:
78943225-78943225

C

T

exonic

De novo

synonymous SNV

NM_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

6.944

1.662E-5

Fu2022 E

KCNMA1

5-0040-003

chr10:
78986191-78986191

G

A

intronic

De novo

-

Yuen2017 G

KCNMA1

AU1995302

chr10:
79321477-79321477

T

C

intronic

De novo

-

Yuen2017 G

KCNMA1

AU4032305

chr10:
79043681-79043681

C

T

intronic

De novo

-

Yuen2017 G

KCNMA1

1-0402-004

chr10:
79001094-79001094

A

C

intronic

De novo

-

Yuen2017 G

KCNMA1

1-0552-003

chr10:
79271196-79271196

T

C

intronic

De novo

-

Yuen2017 G

KCNMA1

1-0344-003

chr10:
78773877-78773877

G

T

intronic

De novo

-

Yuen2017 G

KCNMA1

2-1411-003

chr10:
79064240-79064240

C

T

intronic

De novo

-

Yuen2017 G

KCNMA1

08C74467

chr10:
78669774-78669774

C

G

exonic

De novo

nonsynonymous SNV

NM_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

-

Fu2022 E
Satterstrom2020 E

KCNMA1

AU4145301

chr10:
79073625-79073625

A

G

intronic

De novo

-

Yuen2017 G

KCNMA1

2-1265-003

chr10:
79394764-79394764

T

A

intronic

De novo

-

Yuen2017 G

KCNMA1

1-0206-003

chr10:
79309033-79309033

G

A

intronic

De novo

-

Yuen2017 G

KCNMA1

2-0142-004

chr10:
79280059-79280059

A

AGGTCTG

intronic

De novo

-

Yuen2017 G

KCNMA1

7-0135-003

chr10:
79273021-79273021

C

A

intronic

De novo

-

Yuen2017 G

KCNMA1

2-0202-003

chr10:
78973315-78973315

G

A

intronic

De novo

-

Yuen2017 G

KCNMA1

7-0135-003

chr10:
79273838-79273838

G

A

intronic

De novo

-

Yuen2017 G

KCNMA1

5-0033-004

chr10:
79056674-79056674

G

GT

intronic

De novo

-

Yuen2017 G

KCNMA1

AU036203

chr10:
78704706-78704706

C

T

exonic

De novo

synonymous SNV

NM_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

1-0751-003

chr10:
79387727-79387727

A

G

intronic

De novo

-

Yuen2017 G

KCNMA1

AU3680302

chr10:
78878331-78878331

T

C

intronic

De novo

-

Yuen2017 G

KCNMA1

2-1348-003

chr10:
79316666-79316666

C

T

intronic

De novo

-

Yuen2017 G

KCNMA1

AU4072303

chr10:
78866545-78866545

G

T

intronic

De novo

-

Yuen2017 G

KCNMA1

AU3862305

chr10:
78898665-78898665

G

A

intronic

De novo

-

Yuen2017 G

KCNMA1

1-0193-003

chr10:
79530120-79530120

C

A

intergenic

De novo

-

Yuen2017 G

KCNMA1

A14

chr10:
79246463-79246463

G

A

intronic

De novo

-

Wu2018 G

KCNMA1

AU076508

chr10:
78987813-78987813

C

T

intronic

De novo

-

Yuen2017 G

KCNMA1

20-0517250-22

chr10:
78832998-78832998

T

G

exonic

De novo

nonsynonymous SNV

NM_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

-

Fu2022 E
Satterstrom2020 E

KCNMA1

1-0075-003

chr10:
79448925-79448925

C

T

intergenic

De novo

-

Yuen2017 G

KCNMA1

2-0318-004

chr10:
79307301-79307301

C

T

intronic

De novo

-

Yuen2017 G

KCNMA1

AU3811305

chr10:
79327122-79327122

T

C

intronic

De novo

-

Yuen2017 G

KCNMA1

1-0433-004

chr10:
79298849-79298849

C

T

intronic

De novo

-

Yuen2017 G

KCNMA1

7-0133-003

chr10:
79466274-79466274

A

G

intergenic

De novo

-

Yuen2017 G

KCNMA1

SP0000267

chr10:
78708954-78708954

G

C

exonic

De novo

stopgain

NM_001271518
NM_002247
NM_001014797
NM_001161352
NM_001161353
NM_001271519

c.C2331G
c.C2481G
c.C2493G
c.C2655G
c.C2604G
c.C2490G

p.Y777X
p.Y827X
p.Y831X
p.Y885X
p.Y868X
p.Y830X

38.0

-

Antaki2022 GE
Fu2022 E

KCNMA1

SP0053238

chr10:
78669812-78669812

T

C

exonic

nonsynonymous SNV

NM_001271518
NM_002247
NM_001014797
NM_001161352
NM_001161353
NM_001271519

c.A2735G
c.A2885G
c.A2897G
c.A3059G
c.A3008G
c.A2975G

p.D912G
p.D962G
p.D966G
p.D1020G
p.D1003G
p.D992G

22.2

-

Antaki2022 GE

KCNMA1

7-0141-003

chr10:
79540724-79540724

G

A

intergenic

De novo

-

Yuen2017 G

KCNMA1

2-1475-003

chr10:
79318987-79318987

G

A

intronic

De novo

-

Yuen2017 G

KCNMA1

1-0487-003

chr10:
78859810-78859810

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KCNMA1

2-1105-003

chr10:
79179317-79179317

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KCNMA1

2-0018-004

chr10:
78846339-78846339

G

A

exonic

De novo

synonymous SNV

NM_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

AU4012302

chr10:
78863200-78863200

T

C

intronic

De novo

-

Yuen2017 G

KCNMA1

200675470@1082034721

chr10:
78943225-78943225

C

T

exonic

De novo

synonymous SNV

NM_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

6.944

1.662E-5

Satterstrom2020 E

KCNMA1

1-0757-003

chr10:
78981966-78981966

G

A

intronic

De novo

-

Yuen2017 G

KCNMA1

AU3190305

chr10:
79309415-79309415

C

T

intronic

De novo

-

Yuen2017 G

KCNMA1

13008.p1

chr10:
78761230-78761230

G

T

exonic

De novo

nonsynonymous SNV

NM_001161352

c.C2201A

p.T734N

13.47

-

Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

KCNMA1

09C90312

chr10:
78943225-78943225

C

T

exonic

De novo

synonymous SNV

NM_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

6.944

1.662E-5

Neale2012 E

KCNMA1

AU054303

chr10:
78783899-78783899

A

T

intronic

De novo

-

Yuen2017 G

KCNMA1

AU054303

chr10:
78786037-78786037

C

T

intronic

De novo

-

Yuen2017 G

KCNMA1

AU054303

chr10:
78786039-78786039

A

G

intronic

De novo

-

Yuen2017 G

KCNMA1

10C105879

chr10:
78869948-78869948

A

C

exonic

De novo

nonsynonymous SNV

NM_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
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E

KCNMA1

1-0104-004

chr10:
79422328-79422328

C

T

intergenic

De novo

-

Yuen2017 G

KCNMA1

1255JS0019

chr10:
78943225-78943225

C

T

exonic

De novo

synonymous SNV

NM_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

6.944

1.662E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

KCNMA1

AU4485302

chr10:
78891225-78891225

G

A

intronic

De novo

-

Yuen2017 G

KCNMA1

08C71716

chr10:
78669785-78669785

G

A

exonic

De novo

nonsynonymous SNV

NM_001271518
NM_002247
NM_001014797
NM_001161352
NM_001161353
NM_001271519

c.C2762T
c.C2912T
c.C2924T
c.C3086T
c.C3035T
c.C3002T

p.T921M
p.T971M
p.T975M
p.T1029M
p.T1012M
p.T1001M

29.7

-

Fu2022 E

KCNMA1

SP0048711

chr10:
79347612-79347612

T

G

intronic

De novo

-

Fu2022 E

KCNMA1

Mahjani2021:18

chr10:
78647253-78647253

G

C

exonic

nonsynonymous SNV

NM_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

KCNMA1

SP0005890

chr10:
79397344-79397374

TCCGCCGCCGCCGCCGCCGCCGCTGCTGCCG

T

exonic

De novo

nonframeshift deletion

NM_001014797
NM_001161352
NM_001161353
NM_001271518
NM_001271519
NM_001271520
NM_001271521
NM_001271522
NM_002247

c.27_56del
c.27_56del
c.27_56del
c.27_56del
c.27_56del
c.27_56del
c.27_56del
c.27_56del
c.27_56del

p.9_19del
p.9_19del
p.9_19del
p.9_19del
p.9_19del
p.9_19del
p.9_19del
p.9_19del
p.9_19del

-

Fu2022 E

Source Variant Information

, -

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 notes	View
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