Variant Results

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Results for "SCRIB"

Variant Events: 13

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

SCRIB

10C101745

chr8:
144891120-144891120

G

A

exonic

De novo

nonsynonymous SNV

NM_015356
NM_182706

c.C1774T
c.C1774T

p.P592S
p.P592S

8.081

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E

SCRIB

A30

chr8:
144880030-144880030

C

T

intronic

De novo

-

-

Wu2018 G

SCRIB

08C72914

chr8:
144887442-144887442

C

T

exonic

De novo

nonsynonymous SNV

NM_015356
NM_182706

c.G2510A
c.G2510A

p.R837Q
p.R837Q

23.5

Fu2022 E
Satterstrom2020 E

SCRIB

AU2410302

chr8:
144851671-144851671

A

T

intergenic

De novo

-

-

Yuen2017 G

SCRIB

SP0007400

chr8:
144897383-144897383

C

G

splicing

De novo

splicing

21.0

-

Fu2022 E

SCRIB

SMHC00818s000

chr8:
144887563-144887563

C

T

exonic

De novo

nonsynonymous SNV

NM_015356
NM_182706

c.G2389A
c.G2389A

p.V797M
p.V797M

22.4

Yuan2023 E

SCRIB

SP0089966

chr8:
144873420-144873420

G

A

exonic

De novo

synonymous SNV

NM_015356
NM_182706

c.C4806T
c.C4881T

p.G1602G
p.G1627G

0.043

-

Fu2022 E

SCRIB

AU3951302

chr8:
144859431-144859431

A

T

intergenic

De novo

-

-

Yuen2017 G

SCRIB

SP0106388

chr8:
144886319-144886319

C

T

exonic

De novo

nonsynonymous SNV

NM_015356
NM_182706

c.G3017A
c.G3017A

p.R1006H
p.R1006H

7.466

Fu2022 E

SCRIB

EGAN00001101301

chr8:
144889834-144889834

A

C

intronic

De novo

-

Satterstrom2020 E

SCRIB

2-1281-003

chr8:
144836500-144836500

G

A

intergenic

De novo

-

-

Yuen2017 G

SCRIB

SP0088844

chr8:
144871595-144871595

C

T

intergenic

De novo

-

-

Fu2022 E

SCRIB

SP0066510

chr8:
144895126-144895126

G

A

exonic

De novo

synonymous SNV

NM_015356
NM_182706

c.C648T
c.C648T

p.L216L
p.L216L

-

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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