Variant Results

or

Results for "SPG7"

Variant Events: 24

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

SPG7

3-0352-000

chr16:
89574909-89574909

C

T

exonic

De novo

synonymous SNV

NM_003119
NM_199367

c.C84T
c.C84T

p.A28A
p.A28A

-

Trost2022 G
Zhou2022 GE

SPG7

mAGRE5329

chr16:
89623490-89623491

TG

T

exonic

Maternal

frameshift deletion

NM_003119

c.2378delG

p.W793fs

-

Cirnigliaro2023 G

SPG7

iHART2962

chr16:
89623307-89623308

CT

C

exonic

Maternal

frameshift deletion

NM_003119

c.2195delT

p.L732fs

-

Ruzzo2019 G

SPG7

200675453@1082034446

chr16:
89613072-89613072

C

T

exonic

De novo

nonsynonymous SNV

NM_003119

c.C1456T

p.R486W

19.73

5.19E-5

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SPG7

mAGRE5328

chr16:
89623490-89623491

TG

T

exonic

Maternal

frameshift deletion

NM_003119

c.2378delG

p.W793fs

-

Cirnigliaro2023 G

SPG7

mAGRE2962

chr16:
89623307-89623308

CT

C

exonic

Maternal

frameshift deletion

NM_003119

c.2195delT

p.L732fs

-

Cirnigliaro2023 G

SPG7

mAGRE4172

chr16:
89619429-89619429

C

T

exonic

Paternal

stopgain

NM_003119

c.C1822T

p.Q608X

38.0

-

Cirnigliaro2023 G

SPG7

SP0125708

chr16:
89579410-89579410

A

G

exonic

De novo

nonsynonymous SNV

NM_003119
NM_199367

c.A341G
c.A341G

p.D114G
p.D114G

4.625

-

Fu2022 E
Zhou2022 GE

SPG7

SP0132441

chr16:
89590619-89590619

C

T

exonic

De novo

synonymous SNV

NM_003119
NM_199367

c.C582T
c.C582T

p.V194V
p.V194V

-

8.276E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

SPG7

4-0085-003

chr16:
89601762-89601762

C

T

intronic

De novo

-

Trost2022 G

SPG7

3-0086-000

chr16:
89618272-89618273

CT

C

intronic

De novo

-

Trost2022 G

SPG7

SP0157632

chr16:
89574805-89574805

A

G

UTR5

De novo

-

Trost2022 G

SPG7

MSSNG00033-003

chr16:
89584530-89584530

T

G

intronic

De novo

-

Trost2022 G

SPG7

mAGRE4171

chr16:
89619429-89619429

C

T

exonic

Paternal

stopgain

NM_003119

c.C1822T

p.Q608X

38.0

-

Cirnigliaro2023 G

SPG7

1-0213-004

chr16:
89578389-89578389

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPG7

mAGRE1972

chr16:
89598368-89598397

CGGCCCCCCCGGCTGTGGGAAGACGCTGCT

C

exonic

Maternal

frameshift deletion

NM_003119
NM_199367

c.1045_1073del
c.1045_1073del

p.G349fs
p.G349fs

-

8.307E-6

Cirnigliaro2023 G

SPG7

iHART1972

chr16:
89598368-89598397

CGGCCCCCCCGGCTGTGGGAAGACGCTGCT

C

exonic

Maternal

frameshift deletion

NM_003119
NM_199367

c.1045_1073del
c.1045_1073del

p.G349fs
p.G349fs

-

8.307E-6

Ruzzo2019 G

SPG7

mAGRE4922

chr16:
89574827-89574828

TG

T

exonic

Maternal

frameshift deletion

NM_003119
NM_199367

c.3delG
c.3delG

p.M1fs
p.M1fs

-

Cirnigliaro2023 G

SPG7

Chen2017:44

chr16:
89613072-89613072

C

T

exonic

De novo

nonsynonymous SNV

NM_003119

c.C1456T

p.R486W

19.73

5.19E-5

Chen2017 E

SPG7

2-1382-003

chr16:
89609544-89609544

A

G

intronic

De novo

-

Yuen2017 G

SPG7

12349.p1

chr16:
89597239-89597239

G

A

intronic

Mosaic

-

8.246E-6

Dou2017 E

SPG7

11550-1

chr16:
89595952-89595952

G

A

exonic

De novo

nonsynonymous SNV

NM_003119
NM_199367

c.G826A
c.G826A

p.G276R
p.G276R

11.57

1.735E-5

Fu2022 E

SPG7

4-0100-004

chr16:
89619939-89619939

C

T

intronic

De novo

-

Trost2022 G

SPG7

200675453_1082034446

chr16:
89613072-89613072

C

T

exonic

De novo

nonsynonymous SNV

NM_003119

c.C1456T

p.R486W

19.73

5.19E-5

Fu2022 E

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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