Variant Results

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Results for "SH3TC1"

Variant Events: 25

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

SH3TC1

2-1477-003

chr4:
8223321-8223321

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SH3TC1

2-1357-004

chr4:
8225799-8225801

CAT

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SH3TC1

12828.p1

chr4:
8230140-8230140

G

A

exonic

De novo

nonsynonymous SNV

NM_018986

c.G2719A

p.A907T

18.03

-

Ji2016 E
Krumm2015 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SH3TC1

2-1429-004

chr4:
8258396-8258396

G

A

intergenic

De novo

-

-

Yuen2017 G

SH3TC1

iHART2908

chr4:
8233884-8233897

GTGAGGGCTGGCTC

G

splicing

Paternal

splicing

-

Ruzzo2019 G

SH3TC1

iHART3047

chr4:
8238049-8238066

GGAGCTGCGGCTGTGCAA

G

exonic

Paternal

frameshift deletion

NM_018986

c.3451_3467del

p.E1151fs

-

-

Ruzzo2019 G

SH3TC1

iHART2909

chr4:
8233884-8233897

GTGAGGGCTGGCTC

G

splicing

Paternal

splicing

-

Ruzzo2019 G

SH3TC1

iHART1880

chr4:
8242424-8242424

G

A

splicing

Paternal

splicing

12.18

Ruzzo2019 G

SH3TC1

iHART3044

chr4:
8238049-8238066

GGAGCTGCGGCTGTGCAA

G

exonic

Paternal

frameshift deletion

NM_018986

c.3451_3467del

p.E1151fs

-

-

Ruzzo2019 G

SH3TC1

DEASD_0100_001

chr4:
8207326-8207326

G

A

intronic

De novo

3.443

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

SH3TC1

AU2296301

chr4:
8203976-8203976

G

A

intronic

De novo

-

-

Trost2022 G

SH3TC1

13649.p1

chr4:
8238464-8238464

G

C

intronic

De novo

-

-

Turner2016 G

SH3TC1

AU2863302

chr4:
8258309-8258309

C

T

intergenic

De novo

-

-

Yuen2017 G

SH3TC1

mAGRE5736

chr4:
8242658-8242658

G

A

exonic

Paternal

stopgain

NM_018986

c.G3987A

p.W1329X

41.0

-

Cirnigliaro2023 G

SH3TC1

mAGRE1880

chr4:
8242424-8242424

G

A

splicing

Paternal

splicing

12.18

Cirnigliaro2023 G

SH3TC1

mAGRE3047

chr4:
8238049-8238066

GGAGCTGCGGCTGTGCAA

G

exonic

Paternal

frameshift deletion

NM_018986

c.3451_3467del

p.E1151fs

-

-

Cirnigliaro2023 G

SH3TC1

mAGRE3044

chr4:
8238049-8238066

GGAGCTGCGGCTGTGCAA

G

exonic

Paternal

frameshift deletion

NM_018986

c.3451_3467del

p.E1151fs

-

-

Cirnigliaro2023 G

SH3TC1

AU2410302

chr4:
8233884-8233897

GTGAGGGCTGGCTC

G

splicing

Paternal

splicing

-

Cirnigliaro2023 G

SH3TC1

AU2410301

chr4:
8233884-8233897

GTGAGGGCTGGCTC

G

splicing

Paternal

splicing

-

Cirnigliaro2023 G

SH3TC1

1045

chr4:
8224465-8224465

C

T

intronic

De novo

-

-

Trost2022 G

SH3TC1

mAGRE1388

chr4:
8206893-8206893

G

T

splicing

Paternal

splicing

-

-

Cirnigliaro2023 G

SH3TC1

SP0083710

chr4:
8238207-8238207

A

C

intronic

De novo

-

-

Trost2022 G

SH3TC1

1-0435-003

chr4:
8268142-8268142

G

C

intergenic

De novo

-

-

Yuen2017 G

SH3TC1

AU4028302

chr4:
8269926-8269926

C

G

intergenic

De novo

-

-

Yuen2017 G

SH3TC1

SP0130575

chr4:
8214608-8214608

G

A

intronic

De novo

-

-

Fu2022 E
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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