Variant Results

or

or

Results for "SAFB"

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

SAFB

3-0456-000

chr19:
5647162-5647162

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

SAFB

11303.p1

chr19:
5657356-5657356

T

C

exonic

De novo

synonymous SNV

NM_001201340
NM_001201338
NM_001201339
NM_002967

c.T1653C
c.T1860C
c.T1860C
c.T1860C

p.H551H
p.H620H
p.H620H
p.H620H

-

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Zhou2022 GE

SAFB

AU3725302

chr19:
5654101-5654101

G

A

exonic

De novo

nonsynonymous SNV

NM_001201340
NM_001201338
NM_001201339
NM_002967

c.G1349A
c.G1556A
c.G1556A
c.G1556A

p.C450Y
p.C519Y
p.C519Y
p.C519Y

4.347

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

SAFB

SP0043477

chr19:
5653110-5653110

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

SAFB

SP0116011

chr19:
5664161-5664161

C

T

exonic

De novo

nonsynonymous SNV

NM_001201340
NM_001201338
NM_001201339
NM_002967

c.C2075T
c.C2282T
c.C2279T
c.C2282T

p.S692L
p.S761L
p.S760L
p.S761L

13.9

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SAFB

2-0299-003

chr19:
5651527-5651527

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SAFB

AU074403

chr19:
5670014-5670014

G

A

intergenic

De novo

-

-

Yuen2017 G

SAFB

3-0439-000

chr19:
5650367-5650367

A

G

intronic

De novo

-

-

Yuen2016 G

SAFB

2-1198-003

chr19:
5633769-5633769

G

T

intronic

De novo

-

-

Trost2022 G

SAFB

1-0138-003

chr19:
5633777-5633777

G

C

intronic

De novo

-

-

Trost2022 G

SAFB

5340

chr19:
5657356-5657356

T

C

exonic

De novo

synonymous SNV

NM_001201340
NM_001201338
NM_001201339
NM_002967

c.T1653C
c.T1860C
c.T1860C
c.T1860C

p.H551H
p.H620H
p.H620H
p.H620H

-

-

Fu2022 E
Trost2022 G

SAFB

SP0116011

chr19:
5664147-5664147

C

T

exonic

De novo

synonymous SNV

NM_001201340
NM_001201338
NM_001201339
NM_002967

c.C2061T
c.C2268T
c.C2265T
c.C2268T

p.R687R
p.R756R
p.R755R
p.R756R

-

-

Trost2022 G
Zhou2022 GE

SAFB

1-0138-003

chr19:
5633769-5633769

G

T

intronic

De novo

-

-

Trost2022 G

SAFB

AU038203

chr19:
5650217-5650217

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SAFB

2-0088-003

chr19:
5637210-5637212

CCG

GCA

intronic

De novo

-

-

Trost2022 G

SAFB

MSSNG00413-003

chr19:
5658896-5658896

G

A

intronic

De novo

-

-

Trost2022 G

SAFB

2-1198-003

chr19:
5633785-5633785

G

A

intronic

De novo

-

-

Trost2022 G

SAFB

3-0456-000B

chr19:
5647162-5647162

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SAFB

2-0088-003

chr19:
5637207-5637207

A

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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