Variant Results

or

or

Results for "SACS"

Variant Events: 13

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

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

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

07C71131

chr13:
23914270-23914270

G

A

exonic

De novo

stopgain

NM_001278055
NM_014363

c.C3304T
c.C3745T

p.Q1102X
p.Q1249X

54.0

-

Satterstrom2020 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

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

SACS

1-0568-003

chr13:
24007452-24007452

T

A

intronic

De novo

-

-

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

-

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

AU1698302

chr13:
23918938-23918938

G

T

intronic

De novo

-

-

Yuen2017 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

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
	More