Variant Results

or

Results for "CACNA1H"

Variant Events: 56

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

CACNA1H

Viggiano2022:22.4

chr16:
1270945-1270945

C

T

exonic

Paternal

nonsynonymous SNV

NM_001005407
NM_021098

c.C6995T
c.C7013T

p.S2332F
p.S2338F

5.632

1.0E-4

Viggiano2022 GT

CACNA1H

Viggiano2022:22.3

chr16:
1270945-1270945

C

T

exonic

Paternal

nonsynonymous SNV

NM_001005407
NM_021098

c.C6995T
c.C7013T

p.S2332F
p.S2338F

5.632

1.0E-4

Viggiano2022 GT

CACNA1H

Viggiano2022:17.3

chr16:
1265066-1265066

G

A

exonic

Maternal

nonsynonymous SNV

NM_001005407
NM_021098

c.G5006A
c.G5024A

p.R1669Q
p.R1675Q

19.64

2.0E-4

Viggiano2022 GT

CACNA1H

Viggiano2022:62.4

chr16:
1260913-1260913

G

A

exonic

Maternal

nonsynonymous SNV

NM_001005407
NM_021098

c.G4165A
c.G4165A

p.A1389T
p.A1389T

11.97

1.675E-5

Viggiano2022 GT

CACNA1H

Viggiano2022:73.3

chr16:
1270659-1270659

G

GG

exonic

Maternal

frameshift insertion

NM_001005407
NM_021098

c.6709dupG
c.6727dupG

p.D2237fs
p.D2243fs

-

Viggiano2022 GT

CACNA1H

AU4164301

chr16:
1254749-1254749

C

T

intronic

De novo

-

Yuen2017 G

CACNA1H

Viggiano2022:92.3

chr16:
1270176-1270176

C

T

exonic

Maternal

nonsynonymous SNV

NM_001005407
NM_021098

c.C6226T
c.C6244T

p.R2076W
p.R2082W

13.16

1.087E-5

Viggiano2022 GT

CACNA1H

F2688-1

chr16:
1257119-1257119

G

A

splicing

De novo

splicing

12.27

-

Montenegro2019 E

CACNA1H

P025

chr16:
1261575-1261575

G

A

exonic

Paternal

nonsynonymous SNV

NM_001005407
NM_021098

c.G4445A
c.G4445A

p.R1482Q
p.R1482Q

33.0

1.0E-4

Long2019 ET

CACNA1H

SP0072750

chr16:
1204003-1204003

C

T

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.C266T
c.C266T

p.P89L
p.P89L

18.17

-

Fu2022 E
Zhou2022 GE

CACNA1H

P069

chr16:
1255204-1255204

G

A

exonic

Unknown

nonsynonymous SNV

NM_001005407
NM_021098

c.G2542A
c.G2542A

p.G848S
p.G848S

17.91

5.85E-5

Long2019 ET

CACNA1H

7-0453-003

chr16:
1262433-1262433

G

A

intronic

De novo

-

Trost2022 G

CACNA1H

SP0041862

chr16:
1260513-1260513

C

T

intronic

De novo

-

9.326E-5

Fu2022 E
Trost2022 G

CACNA1H

MT_161.3

chr16:
1264553-1264553

G

A

intronic

De novo

-

Trost2022 G

CACNA1H

REACH000714

chr16:
1240931-1240931

C

G

intronic

De novo

-

Trost2022 G

CACNA1H

iHART2744

chr16:
1269980-1269980

G

A

splicing

Maternal

splicing

11.41

-

Ruzzo2019 G

CACNA1H

SP0046608

chr16:
1261853-1261853

C

T

intronic

De novo

-

0.0011

Trost2022 G
Trost2022 G

CACNA1H

SP0046551

chr16:
1257406-1257406

C

T

exonic

De novo

synonymous SNV

NM_001005407
NM_021098

c.C3039T
c.C3039T

p.I1013I
p.I1013I

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CACNA1H

1-1044-003

chr16:
1228873-1228873

G

A

intronic

De novo

-

Trost2022 G

CACNA1H

SSC10271

chr16:
1263915-1263915

A

G

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.A4895G
c.A4913G

p.H1632R
p.H1638R

21.0

-

Fu2022 E
Lim2017 E
Trost2022 G

CACNA1H

SP0099950

chr16:
1251724-1251724

C

G

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.C1274G
c.C1274G

p.T425R
p.T425R

13.89

-

Fu2022 E
Zhou2022 GE

CACNA1H

7-0286-004A

chr16:
1232601-1232602

TC

T

intronic

De novo

-

Trost2022 G

CACNA1H

SP0064002

chr16:
1260335-1260335

C

CCCGCCCCCCCGCGCACCCCCCCCCCCCCCCCCCCCCCAAG

intronic

De novo

-

Fu2022 E

CACNA1H

1-0876-003A

chr16:
1208805-1208805

G

C

intronic

De novo

-

Trost2022 G

CACNA1H

SP0127501

chr16:
1259226-1259226

C

T

exonic

De novo

synonymous SNV

NM_001005407
NM_021098

c.C3558T
c.C3558T

p.P1186P
p.P1186P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CACNA1H

5-0038-003

chr16:
1210697-1210697

G

GC

intronic

De novo

-

Trost2022 G

CACNA1H

TRE_1195

chr16:
1259347-1259347

G

A

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.G3679A
c.G3679A

p.D1227N
p.D1227N

11.53

4.551E-5

Fu2022 E

CACNA1H

TRE_2688

chr16:
1258155-1258155

C

A

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.C3297A
c.C3297A

p.S1099R
p.S1099R

0.196

-

Fu2022 E

CACNA1H

1-0269-003

chr16:
1250375-1250375

G

A

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.G923A
c.G923A

p.R308H
p.R308H

13.79

-

Yuen2017 G
Zhou2022 GE

CACNA1H

78754

chr16:
1258009-1258009

G

A

intronic

De novo

-

2.0E-4

Fu2022 E
Trost2022 G

CACNA1H

14647_p1

chr16:
1257375-1257375

A

G

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.A3008G
c.A3008G

p.N1003S
p.N1003S

21.6

1.72E-5

Fu2022 E

CACNA1H

AU4433301

chr16:
1259101-1259101

T

G

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.T3433G
c.T3433G

p.W1145G
p.W1145G

13.72

-

Yuen2017 G
Zhou2022 GE

CACNA1H

14421.p1

chr16:
1258009-1258009

G

A

intronic

De novo

-

2.0E-4

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

CACNA1H

AU3695303

chr16:
1262563-1262563

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1H

160708

chr16:
1263950-1263950

C

T

intronic

De novo

-

2.549E-5

Satterstrom2020 E
Trost2022 G

CACNA1H

mAGRE2744

chr16:
1269980-1269980

G

A

splicing

Maternal

splicing

11.41

-

Cirnigliaro2023 G

CACNA1H

SP0004175

chr16:
1259413-1259413

G

A

splicing

De novo

splicing

9.409

8.984E-6

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

CACNA1H

D’Gama2015:278

chr16:
1268991-1268991

C

G

exonic

Unknown

nonsynonymous SNV

NM_001005407
NM_021098

c.C5891G
c.C5909G

p.S1964C
p.S1970C

15.92

-

D’Gama2015 T

CACNA1H

UK45353

chr16:
1259273-1259273

G

A

exonic

Unknown

nonsynonymous SNV

NM_001005407
NM_021098

c.G3605A
c.G3605A

p.R1202Q
p.R1202Q

8.892

1.0E-4

D’Gama2015 T

CACNA1H

JASD_Fam0039

chr16:
1259233-1259233

C

T

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.C3565T
c.C3565T

p.R1189C
p.R1189C

6.26

-

Takata2018 E

CACNA1H

AU1848302

chr16:
1235593-1235598

GGTCAG

GG

intronic

De novo

-

Yuen2017 G

CACNA1H

1-1123-003

chr16:
1255117-1255117

G

A

exonic

nonsynonymous SNV

NM_001005407
NM_021098

c.G2455A
c.G2455A

p.E819K
p.E819K

12.29

3.764E-5

Zhou2022 GE

CACNA1H

9190752

chr16:
1248621-1248621

G

A

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.G650A
c.G650A

p.R217Q
p.R217Q

18.73

1.661E-5

Fu2022 E

CACNA1H

G01_GEA533HI

chr16:
1203975-1203975

T

G

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.T238G
c.T238G

p.F80V
p.F80V

14.85

-

Fu2022 E

CACNA1H

07C71009

chr16:
1270908-1270908

C

T

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.C6958T
c.C6976T

p.L2320F
p.L2326F

11.28

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CACNA1H

2-1375-003

chr16:
1211683-1211683

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1H

11634.p1

chr16:
1270476-1270476

C

T

exonic

nonsynonymous SNV

NM_001005407
NM_021098

c.C6526T
c.C6544T

p.R2176C
p.R2182C

14.39

-

Zhou2022 GE

CACNA1H

AU007503

chr16:
1228534-1228534

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACNA1H

14647.p1

chr16:
1257375-1257375

A

G

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.A3008G
c.A3008G

p.N1003S
p.N1003S

21.6

1.72E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

CACNA1H

14061.p1

chr16:
1263915-1263915

A

G

exonic

De novo

nonsynonymous SNV

NM_001005407
NM_021098

c.A4895G
c.A4913G

p.H1632R
p.H1638R

21.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

CACNA1H

Viggiano2022:105.3

chr16:
1255207-1255207

C

T

exonic

Paternal

nonsynonymous SNV

NM_001005407
NM_021098

c.C2545T
c.C2545T

p.P849S
p.P849S

13.46

3.342E-5

Viggiano2022 GT

CACNA1H

Viggiano2022:34.3

chr16:
1255117-1255117

G

A

exonic

Maternal

nonsynonymous SNV

NM_001005407
NM_021098

c.G2455A
c.G2455A

p.E819K
p.E819K

12.29

3.764E-5

Viggiano2022 GT

CACNA1H

Viggiano2022:15.3

chr16:
1259251-1259251

C

T

exonic

Paternal

nonsynonymous SNV

NM_001005407
NM_021098

c.C3583T
c.C3583T

p.R1195W
p.R1195W

17.41

-

Viggiano2022 GT

CACNA1H

Viggiano2022:42.3

chr16:
1258193-1258193

A

T

exonic

Maternal

nonsynonymous SNV

NM_001005407
NM_021098

c.A3335T
c.A3335T

p.D1112V
p.D1112V

5.605

-

Viggiano2022 GT

CACNA1H

Viggiano2022:45.3

chr16:
1254336-1254336

C

T

exonic

Paternal

nonsynonymous SNV

NM_001005407
NM_021098

c.C2329T
c.C2329T

p.R777C
p.R777C

6.628

1.0E-4

Viggiano2022 GT

CACNA1H

Viggiano2022:60.3

chr16:
1252195-1252195

T

C

exonic

Paternal

nonsynonymous SNV

NM_001005407
NM_021098

c.T1745C
c.T1745C

p.I582T
p.I582T

8.501

-

Viggiano2022 GT

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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