Variant Results

or

Results for "Montenegro2019"

Variant Events: 19

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

F2688-1

chr16:
1257119-1257119

G

A

splicing

De novo

splicing

12.27

-

Montenegro2019 E

KCNB1

F2685-1

chr20:
47991181-47991181

G

A

exonic

De novo

nonsynonymous SNV

NM_004975

c.C916T

p.R306C

17.67

-

Montenegro2019 E

AP1G2

F5249-1

chr14:
24031265-24031265

G

T

exonic

De novo

nonsynonymous SNV

NM_001282474
NM_001282475
NM_003917

c.C496A
c.C1423A
c.C1639A

p.Q166K
p.Q475K
p.Q547K

5.572

-

Montenegro2019 E

A1CF

F5249-1

chr10:
52580352-52580352

C

T

exonic

De novo

nonsynonymous SNV

NM_014576
NM_138932
NM_138933
NM_001198818
NM_001198820
NM_001198819

c.G827A
c.G827A
c.G851A
c.G827A
c.G851A
c.G851A

p.R276Q
p.R276Q
p.R284Q
p.R276Q
p.R284Q
p.R284Q

35.0

8.275E-6

Montenegro2019 E

PRPF8

F1729-1

chr17:
1563799-1563799

A

C

exonic

De novo

nonsynonymous SNV

NM_006445

c.T4712G

p.I1571S

20.8

-

Montenegro2019 E

CUL3

F1389-1

chr2:
225378299-225378299

G

C

exonic

De novo

stopgain

NM_001257197
NM_001257198
NM_003590

c.C398G
c.C614G
c.C596G

p.S133X
p.S205X
p.S199X

38.0

-

Montenegro2019 E

DOCK1

F2613-1

chr10:
129224199-129224199

C

T

exonic

De novo

nonsynonymous SNV

NM_001290223
NM_001380

c.C4838T
c.C4775T

p.P1613L
p.P1592L

23.6

8.28E-6

Montenegro2019 E

ZBTB24

F1729-1

chr6:
109798047-109798047

C

T

exonic

De novo

nonsynonymous SNV

NM_014797

c.G1039A

p.E347K

34.0

8.351E-6

Montenegro2019 E

FBXL20

F5996-1

chr17:
37431230-37431230

G

A

exonic

De novo

nonsynonymous SNV

NM_001184906
NM_032875

c.C724T
c.C820T

p.R242W
p.R274W

17.25

2.472E-5

Montenegro2019 E

CALM2

F5980-1

chr2:
47403628-47403628

A

G

exonic

De novo

nonsynonymous SNV

NM_001305624

c.T53C

p.L18P

7.907

1.004E-5

Montenegro2019 E

ATP10A

F8787-1

chr15:
26026323-26026323

C

T

exonic

De novo

nonsynonymous SNV

NM_024490

c.G497A

p.G166E

25.7

-

Montenegro2019 E

ZNF341

F6123-1

chr20:
32357960-32357960

A

G

exonic

De novo

nonsynonymous SNV

NM_001282935
NM_001282933
NM_032819

c.A1214G
c.A1484G
c.A1463G

p.K405R
p.K495R
p.K488R

7.056

-

Montenegro2019 E

DHODH

F5616-1

chr16:
72050924-72050924

T

C

exonic

De novo

nonsynonymous SNV

NM_001361

c.T436C

p.Y146H

11.05

-

Montenegro2019 E

SHANK3

F5252-1

chr22:
51160012-51160025

CTGCCCAGCCCCCG

C

exonic

De novo

frameshift deletion

NM_033517

c.3710_3722del

p.L1237fs

-

Montenegro2019 E

PKP3

F5979-1

chr11:
397240-397240

G

C

exonic

De novo

nonsynonymous SNV

NM_007183
NM_001303029

c.G739C
c.G784C

p.A247P
p.A262P

27.7

-

Montenegro2019 E

ANKS1B

F5674-1

chr12:
99837458-99837458

C

T

exonic

De novo

nonsynonymous SNV

NM_152788

c.G1568A

p.R523Q

31.0

-

Montenegro2019 E

NCL

F10637-1

chr2:
232323067-232323067

A

G

exonic

De novo

nonsynonymous SNV

NM_005381

c.T1199C

p.L400P

21.5

-

Montenegro2019 E

TXLNA

F8787-1

chr1:
32655678-32655678

G

A

exonic

De novo

nonsynonymous SNV

NM_175852

c.G791A

p.R264Q

36.0

-

Montenegro2019 E

RBM14

F10637-1

chr11:
66394047-66394047

G

A

exonic

De novo

nonsynonymous SNV

NM_006328

c.G1918A

p.D640N

18.15

8.296E-6

Montenegro2019 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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