Variant Results

or

Results for "SCP2"

Variant Events: 20

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

SCP2

Li2017:18377

chr1:
53453802-53453802

G

A

exonic

Unknown

nonsynonymous SNV

NM_001007098
NM_001193599
NM_001193600
NM_001193617
NM_002979

c.G943A
c.G1003A
c.G943A
c.G832A
c.G1075A

p.A315T
p.A335T
p.A315T
p.A278T
p.A359T

35.0

5.02E-5

Li2017 T

SCP2

PN400557

chr1:
53480667-53480667

G

A

exonic

Unknown

nonsynonymous SNV

NM_001193599
NM_001193600
NM_001193617
NM_002979

c.G1115A
c.G1055A
c.G944A
c.G1187A

p.G372E
p.G352E
p.G315E
p.G396E

27.7

4.119E-5

Leblond2019 E

SCP2

Li2017:30

chr1:
53442442-53442442

G

C

splicing

Unknown

splicing

25.1

-

Li2017 T

SCP2

11002.p1

chr1:
53496631-53496631

C

T

intronic

De novo

-

Turner2016 G

SCP2

1-0606-003

chr1:
53503925-53503939

TACACACACACACAC

TACACACACACAC

intronic

De novo

-

Yuen2017 G

SCP2

A30

chr1:
53512699-53512699

C

G

intronic

De novo

-

Wu2018 G

SCP2

1-0373-003

chr1:
53417094-53417099

TAGAAC

AAAACT

intronic

De novo

-

Trost2022 G

SCP2

PN400117

chr1:
53480667-53480667

G

A

exonic

Unknown

nonsynonymous SNV

NM_001193599
NM_001193600
NM_001193617
NM_002979

c.G1115A
c.G1055A
c.G944A
c.G1187A

p.G372E
p.G352E
p.G315E
p.G396E

27.7

4.119E-5

Leblond2019 E

SCP2

SP0149876

chr1:
53443882-53443882

C

G

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SCP2

4-0046-003

chr1:
53417094-53417096

TAG

AA

intronic

De novo

-

Trost2022 G

SCP2

4-0046-003

chr1:
53417109-53417111

TAC

CAA

intronic

De novo

-

Trost2022 G

SCP2

4-0046-003

chr1:
53417100-53417106

CTGTGTT

TCTCTC

intronic

De novo

-

Trost2022 G

SCP2

SP0043275

chr1:
53443831-53443831

C

G

intronic

De novo

-

Fu2022 E

SCP2

4-0046-003

chr1:
53417087-53417089

ACG

GCA

intronic

De novo

-

Trost2022 G

SCP2

1-0373-003

chr1:
53417087-53417089

ACG

GCA

intronic

De novo

-

Trost2022 G

SCP2

11712_p1

chr1:
53416506-53416508

CTG

C

exonic

De novo

frameshift deletion

NM_001193599
NM_001193617
NM_002979

c.208_209del
c.37_38del
c.280_281del

p.C70fs
p.C13fs
p.C94fs

-

Fu2022 E

SCP2

11712.p1

Complex Event; expand row to view variants

De novo

frameshift deletion, frameshift insertion

NM_001193599
NM_001193617
NM_002979
NM_001193599
NM_001193617
NM_002979

c.208_209del
c.37_38del
c.280_281del
c.207_208insTG
c.36_37insTG
c.279_280insTG

p.C70fs
p.C13fs
p.C94fs
p.N69fs
p.N12fs
p.N93fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

SCP2

7-0483-003

chr1:
53457881-53457881

A

G

intronic

De novo

-

Trost2022 G

SCP2

7-0411-003

chr1:
53424161-53424161

C

G

intronic

De novo

-

Trost2022 G

SCP2

Li2017:20274

chr1:
53442442-53442442

G

C

splicing

Unknown

splicing

25.1

-

Li2017 T

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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