Variant Results

or

Results for "SBF1"

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

SBF1

12563.p1

chr22:
50904296-50904296

C

G

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E

SBF1

09C99485

chr22:
50898487-50898487

C

T

exonic

De novo

nonsynonymous SNV

NM_002972

c.G3385A

p.D1129N

27.4

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SBF1

AU185A

chr22:
50899099-50899099

C

T

exonic

De novo

nonsynonymous SNV

NM_002972

c.G3010A

p.A1004T

15.67

8.322E-6

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

SBF1

SP0093819

chr22:
50904772-50904772

G

C

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SBF1

mAGRE1797

chr22:
50902807-50902807

C

T

exonic

De novo

nonsynonymous SNV

NM_002972

c.G1700A

p.R567H

22.9

-

Cirnigliaro2023 G

SBF1

13793.p1

chr22:
50899030-50899030

T

C

exonic

De novo

nonsynonymous SNV

NM_002972

c.A3079G

p.T1027A

1.494

-

Iossifov2014 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SBF1

iHART1797

chr22:
50902807-50902807

C

T

exonic

De novo

nonsynonymous SNV

NM_002972

c.G1700A

p.R567H

22.9

-

Ruzzo2019 G

SBF1

12930.p1

chr22:
50901032-50901032

G

A

exonic

De novo

nonsynonymous SNV

NM_002972

c.C2083T

p.R695W

21.0

3.76E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
Satterstrom2020 E

SBF1

Lim2017:5011

chr22:
50899030-50899030

T

C

exonic

De novo

nonsynonymous SNV

NM_002972

c.A3079G

p.T1027A

1.494

-

Lim2017 E

SBF1

5011

chr22:
50899030-50899030

T

C

exonic

De novo

nonsynonymous SNV

NM_002972

c.A3079G

p.T1027A

1.494

-

Fu2022 E
Trost2022 G

SBF1

Alvarez-Mora2016:ASD-21

chr22:
50893127-50893127

G

C

exonic

Maternal

nonsynonymous SNV

NM_002972

c.C4857G

p.D1619E

12.94

-

Alvarez-Mora2016 T

SBF1

GX0026.p1

chr22:
50900835-50900835

C

T

exonic

Paternal

nonsynonymous SNV

NM_002972

c.G2195A

p.R732H

32.0

6.655E-5

Guo2018 T

SBF1

MT_165.3

chr22:
50887355-50887355

G

A

intronic

De novo

-

Trost2022 G

SBF1

13811.p1

chr22:
50904837-50904837

G

A

exonic

Maternal

stopgain

NM_002972

c.C730T

p.Q244X

36.0

-

O’Roak2012a T

SBF1

13942.p1

chr22:
50913288-50913288

G

T

UTR5

De novo

-

Turner2016 G

SBF1

REACH000627

chr22:
50912658-50912658

T

A

intronic

De novo

-

Trost2022 G

SBF1

7-0227-003

chr22:
50909182-50909182

T

A

intronic

De novo

-

Trost2022 G

SBF1

SSC05156

chr22:
50904296-50904296

C

G

intronic

De novo

-

Trost2022 G

SBF1

SSC06656

chr22:
50901032-50901032

G

A

exonic

De novo

nonsynonymous SNV

NM_002972

c.C2083T

p.R695W

21.0

3.76E-5

Trost2022 G

SBF1

MSSNG00398-003

chr22:
50894611-50894611

C

T

intronic

De novo

-

Trost2022 G

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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