Variant Results

or

Results for "SH3RF1"

Variant Events: 37

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

SH3RF1

2-0006-004

chr4:
170065718-170065718

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF1

13956.p1

chr4:
170077831-170077831

C

CCTCACTGGGGGGCTCCAGGATTGCACCCGAGGCTGCTGTCCGCCCTGGGAGCTCTGCAGA

splicing

De novo

splicing

-

Satterstrom2020 E

SH3RF1

7-0364-003

chr4:
170131169-170131169

A

T

intronic

De novo

-

Trost2022 G

SH3RF1

MSSNG00336-003

chr4:
170160250-170160250

T

C

intronic

De novo

-

Trost2022 G

SH3RF1

AU3912303

chr4:
170063766-170063766

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF1

1-1066-003

chr4:
170092651-170092651

C

T

intronic

De novo

-

Trost2022 G

SH3RF1

AU4237301

chr4:
170132185-170132185

C

T

intronic

De novo

-

Yuen2017 G

SH3RF1

1-0410-003

chr4:
170107126-170107126

G

A

intronic

De novo

-

Trost2022 G

SH3RF1

MSSNG00109-004

chr4:
170070329-170070330

AC

A

intronic

De novo

-

Trost2022 G

SH3RF1

2-0319-004

chr4:
170152144-170152149

TGTGAG

T

intronic

De novo

-

Yuen2017 G

SH3RF1

SSC09808

chr4:
170077831-170077831

C

CCTCACTGGGGGGCTCCAGGATTGCACCCGAGGCTGCTGTCCGCCCTGGGAGCTCTGCAGA

splicing

De novo

splicing

-

Trost2022 G

SH3RF1

AU4237304

chr4:
170132185-170132185

C

T

intronic

De novo

-

Yuen2017 G

SH3RF1

AU056005

chr4:
170140782-170140783

TG

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF1

1-0206-004

chr4:
170093917-170093917

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF1

2-1093-005

chr4:
170279854-170279854

G

T

intergenic

De novo

-

Yuen2017 G

SH3RF1

AU4235302

chr4:
170085624-170085624

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF1

2-0002-005

chr4:
170218557-170218561

ATTTT

ATTTTT

intergenic

De novo

-

Yuen2017 G

SH3RF1

2-1328-003

chr4:
170054800-170054800

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF1

2K784

chr4:
170028356-170028356

T

TTTTGCTATCCTTGTCTGGTTTGGTTGCTGAACTGTTCCCACAAGCTGATGAAGCACTGTCAGGAGATGTGGGGAGTCCAGGGAGAACGGTCACTATCCGGCCACTGGGCTCAGC

exonic

De novo

nonframeshift insertion

NM_020870

c.2139_2140insGCTGAGCCCAGTGGCCGGATAGTGACCGTTCTCCCTGGACTCCCCACATCTCCTGACAGTGCTTCATCAGCTTGTGGGAACAGTTCAGCAACCAAACCAGACAAGGATAGCAAA

p.K714delinsAEPSGRIVTVLPGLPTSPDSASSACGNSSATKPDKDSKK

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SH3RF1

11379-1

chr4:
170038847-170038847

G

A

exonic

De novo

nonsynonymous SNV

NM_020870

c.C1604T

p.T535M

20.5

4.96E-5

Fu2022 E

SH3RF1

SP0008440

chr4:
170076615-170076615

C

A

intronic

De novo

-

Fu2022 E

SH3RF1

AU3605304

chr4:
170101458-170101458

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF1

2-1292-004

chr4:
170266485-170266485

G

A

intergenic

De novo

-

Yuen2017 G

SH3RF1

AU1223303

chr4:
170098306-170098306

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF1

1-0244-003

chr4:
170045195-170045195

T

C

intronic

De novo

-

Yuen2017 G

SH3RF1

2-1526-004

chr4:
170141807-170141808

GC

G

intronic

De novo

-

Yuen2017 G

SH3RF1

2-1430-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

SH3RF1

SP0081962

chr4:
170051310-170051310

G

GAGAAGGGGCACTGCAGGAGAGCCCAGACAGCT

intronic

De novo

-

Fu2022 E

SH3RF1

SP0113060

chr4:
170051310-170051310

G

GAGAAGGGGCACTGCAGGAGAGC

intronic

De novo

-

Fu2022 E

SH3RF1

5-0109-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

SH3RF1

AU4029302

chr4:
170163410-170163410

C

T

intronic

De novo

-

Yuen2017 G

SH3RF1

2-1511-003

chr4:
170229367-170229367

A

T

intergenic

De novo

-

Yuen2017 G

SH3RF1

AU4176302

chr4:
170143481-170143481

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF1

PN400512

chr4:
170028218-170028218

C

T

exonic

De novo

nonsynonymous SNV

NM_020870

c.G2278A

p.E760K

17.27

8.413E-6

Leblond2019 E

SH3RF1

7-0233-003

chr4:
170023205-170023205

G

A

intronic

De novo

-

Trost2022 G

SH3RF1

7-0292-004A

chr4:
170034977-170034977

G

A

intronic

De novo

-

Trost2022 G

SH3RF1

14234.p1

chr4:
170043349-170043349

G

A

exonic

synonymous SNV

NM_020870

c.C1248T

p.G416G

-

1.843E-5

Zhou2022 GE

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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