Variant Results

or

Results for "SACS"

Variant Events: 23

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

SACS

REACH000288

chr13:
23945424-23945424

G

A

intronic

De novo

-

Trost2022 G

SACS

AU027506

chr13:
24034067-24034067

A

T

intergenic

De novo

-

Yuen2017 G

SACS

SP0009232

chr13:
23909440-23909440

G

A

exonic

De novo

nonsynonymous SNV

NM_001278055
NM_014363

c.C8134T
c.C8575T

p.H2712Y
p.H2859Y

22.3

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

SACS

Lim2017:68728

chr13:
23914892-23914892

C

G

exonic

De novo

nonsynonymous SNV

NM_001278055
NM_014363

c.G2682C
c.G3123C

p.Q894H
p.Q1041H

1.43

-

Lim2017 E

SACS

Wang2023:886

chr13:
23914972-23914972

A

G

exonic

De novo

nonsynonymous SNV

NM_001278055
NM_014363

c.T2602C
c.T3043C

p.W868R
p.W1015R

23.1

-

Wang2023 E

SACS

07C71131

chr13:
23914270-23914270

G

A

exonic

De novo

stopgain

NM_001278055
NM_014363

c.C3304T
c.C3745T

p.Q1102X
p.Q1249X

54.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SACS

68728

chr13:
23914892-23914892

C

G

exonic

De novo

nonsynonymous SNV

NM_001278055
NM_014363

c.G2682C
c.G3123C

p.Q894H
p.Q1041H

1.43

-

Fu2022 E
Trost2022 G

SACS

TRE_507

chr13:
23912171-23912171

A

G

exonic

De novo

synonymous SNV

NM_001278055
NM_014363

c.T5403C
c.T5844C

p.D1801D
p.D1948D

-

Fu2022 E

SACS

JASD_Fam0010

chr13:
23905698-23905698

A

G

exonic

De novo

nonsynonymous SNV

NM_001278055
NM_014363

c.T11876C
c.T12317C

p.L3959P
p.L4106P

12.78

-

Takata2018 E

SACS

1-0162-004

chr13:
24025044-24025044

T

C

intergenic

De novo

-

Yuen2017 G

SACS

7-0174-003

chr13:
23911857-23911857

T

C

exonic

De novo

nonsynonymous SNV

NM_001278055
NM_014363

c.A5717G
c.A6158G

p.E1906G
p.E2053G

17.73

-

Yuen2017 G
Zhou2022 GE

SACS

SP0039516

chr13:
23914970-23914970

C

A

exonic

De novo

nonsynonymous SNV

NM_001278055
NM_014363

c.G2604T
c.G3045T

p.W868C
p.W1015C

23.3

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

SACS

1-0568-003

chr13:
24007452-24007452

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SACS

iHART1042

chr13:
23910808-23910810

CAA

C

exonic

Paternal

frameshift deletion

NM_001278055
NM_014363

c.6764_6765del
c.7205_7206del

p.L2255fs
p.L2402fs

-

1.663E-5

Ruzzo2019 G

SACS

133350

chr13:
23904448-23904448

C

T

exonic

nonsynonymous SNV

NM_001278055
NM_014363

c.G13126A
c.G13567A

p.V4376I
p.V4523I

22.8

-

Woodbury-Smith2022 E

SACS

SP0073956

chr13:
23909942-23909942

T

C

exonic

De novo

synonymous SNV

NM_001278055
NM_014363

c.A7632G
c.A8073G

p.K2544K
p.K2691K

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SACS

SP0093881

chr13:
23929642-23929642

C

T

exonic

De novo

nonsynonymous SNV

NM_001278055
NM_014363

c.G668A
c.G1109A

p.C223Y
p.C370Y

15.6

-

Fu2022 E
Zhou2022 GE

SACS

SP0033073

chr13:
23906047-23906047

A

G

exonic

nonsynonymous SNV

NM_001278055
NM_014363

c.T11527C
c.T11968C

p.C3843R
p.C3990R

19.54

-

Zhou2022 GE

SACS

AU1698302

chr13:
23918938-23918938

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SACS

MCD-029-3

chr13:
23929189-23929189

C

G

exonic

Both parents

nonsynonymous SNV

NM_001278055
NM_014363

c.G1121C
c.G1562C

p.S374T
p.S521T

12.48

5.792E-5

Tuncay2023 G

SACS

12648.p1

chr13:
23914892-23914892

C

G

exonic

De novo

nonsynonymous SNV

NM_001278055
NM_014363

c.G2682C
c.G3123C

p.Q894H
p.Q1041H

1.43

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SACS

mAGRE1042

chr13:
23910808-23910810

CAA

C

exonic

Paternal

frameshift deletion

NM_001278055
NM_014363

c.6764_6765del
c.7205_7206del

p.L2255fs
p.L2402fs

-

1.663E-5

Cirnigliaro2023 G

SACS

MSSNG00056-003

chr13:
23905578-23905578

G

A

exonic

nonsynonymous SNV

NM_001278055
NM_014363

c.C11996T
c.C12437T

p.S3999L
p.S4146L

17.02

4.944E-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
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