Variant Results

or

Results for "SNRNP200"

Variant Events: 16

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

SNRNP200

SP0096668

chr2:
96962676-96962676

G

A

exonic

De novo

nonsynonymous SNV

NM_014014

c.C1510T

p.P504S

29.2

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SNRNP200

DEASD_0008_001

chr2:
96962741-96962741

T

C

exonic

De novo

nonsynonymous SNV

NM_014014

c.A1445G

p.N482S

26.1

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SNRNP200

F10779-1

chr2:
96970564-96970564

G

A

exonic

De novo

nonsynonymous SNV

NM_014014

c.C88T

p.R30W

30.0

-

Fu2022 E

SNRNP200

MSSNG00109-003

chr2:
96945497-96945497

G

GT

intronic

De novo

-

Trost2022 G

SNRNP200

68736

chr2:
96953160-96953160

G

A

intronic

De novo

-

1.647E-5

Trost2022 G

SNRNP200

AU2500301

chr2:
96953275-96953275

A

G

exonic

nonsynonymous SNV

NM_014014

c.T3386C

p.L1129P

24.6

-

Zhou2022 GE

SNRNP200

AU3777302

chr2:
96951536-96951536

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SNRNP200

JASD_Fam0241

chr2:
96944354-96944354

C

T

exonic

De novo

nonsynonymous SNV

NM_014014

c.G5419A

p.E1807K

29.1

-

Takata2018 E

SNRNP200

13026.p1

chr2:
96953160-96953160

G

A

intronic

De novo

-

1.647E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SNRNP200

SP0233300

chr2:
96955751-96955751

A

C

intronic

De novo

-

Trost2022 G

SNRNP200

AU0786305

chr2:
96969006-96969006

G

A

exonic

De novo

nonsynonymous SNV

NM_014014

c.C272T

p.S91L

14.88

8.236E-6

Yuen2017 G
Zhou2022 GE

SNRNP200

SP0092926

chr2:
96943495-96943495

T

G

intronic

De novo

-

Fu2022 E

SNRNP200

3-0216-000

chr2:
96964038-96964038

T

C

exonic

De novo

nonsynonymous SNV

NM_014014

c.A1103G

p.K368R

13.27

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

SNRNP200

08C74665

chr2:
96953275-96953275

A

G

exonic

De novo

nonsynonymous SNV

NM_014014

c.T3386C

p.L1129P

24.6

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SNRNP200

DEASD_4037_001

chr2:
96964382-96964382

G

A

exonic

De novo

nonsynonymous SNV

NM_014014

c.C941T

p.T314I

15.67

-

Fu2022 E

SNRNP200

160658194898-C

chr2:
96958774-96958774

T

C

exonic

De novo

nonsynonymous SNV

NM_014014

c.A2096G

p.K699R

26.9

-

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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