Variant Results

or

Results for "HSPG2"

Variant Events: 43

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

HSPG2

2-1451-003

chr1:
22181309-22181309

T

C

intronic

De novo

-

Yuen2017 G

HSPG2

2-0244-004

chr1:
22259478-22259478

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

HSPG2

MT_160.4

chr1:
22194106-22194106

C

T

intronic

De novo

-

Trost2022 G

HSPG2

12385.p1

chr1:
22181274-22181279

GGGTCA

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

HSPG2

68695

chr1:
22181274-22181279

GGGTCA

G

intronic

De novo

-

Trost2022 G

HSPG2

SP0119755

chr1:
22217179-22217179

G

A

exonic

De novo

stopgain

NM_001291860
NM_005529

c.C253T
c.C253T

p.R85X
p.R85X

24.7

8.273E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

HSPG2

REACH000697

chr1:
22219593-22219593

G

A

intronic

De novo

-

Trost2022 G

HSPG2

MSSNG00041-004

chr1:
22200384-22200384

C

A

intronic

De novo

-

Trost2022 G

HSPG2

SP0082859

chr1:
22161367-22161367

C

T

exonic

De novo

nonsynonymous SNV

NM_001291860
NM_005529

c.G10528A
c.G10525A

p.E3510K
p.E3509K

17.85

2.0E-4

Trost2022 G
Zhou2022 GE

HSPG2

1-0483-004

chr1:
22168256-22168256

C

A

intronic

De novo

-

Trost2022 G

HSPG2

MSSNG00353-004

chr1:
22153807-22153807

C

T

intronic

De novo

-

Trost2022 G

HSPG2

SP0036988

chr1:
22172777-22172778

AG

A

intronic

De novo

-

Fu2022 E
Trost2022 G

HSPG2

SP0114190

chr1:
22155617-22155617

G

T

intronic

De novo

-

Fu2022 E
Trost2022 G

HSPG2

SP0139290

chr1:
22175274-22175274

C

A

exonic

De novo

synonymous SNV

NM_001291860
NM_005529

c.G7602T
c.G7599T

p.A2534A
p.A2533A

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HSPG2

SP0046238

chr1:
22206783-22206783

C

T

intronic

De novo

-

2.0E-4

Fu2022 E
Trost2022 G

HSPG2

SP0008211

chr1:
22186217-22186217

C

T

intronic

De novo

-

Fu2022 E

HSPG2

SP0128722

chr1:
22214482-22214482

G

A

exonic

De novo

nonsynonymous SNV

NM_001291860
NM_005529

c.C652T
c.C652T

p.R218C
p.R218C

25.4

1.65E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

HSPG2

2-1519-006

chr1:
22224098-22224098

G

A

intronic

De novo

-

Trost2022 G

HSPG2

AU1448301

chr1:
22268235-22268237

CCC

CCCTGTGACCAATTATATCCCCTGTGACC

intergenic

De novo

-

Yuen2017 G

HSPG2

SP0125472

chr1:
22180817-22180817

C

T

exonic

De novo

nonsynonymous SNV

NM_001291860
NM_005529

c.G6311A
c.G6308A

p.R2104Q
p.R2103Q

24.4

1.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

HSPG2

REACH000714

chr1:
22223505-22223505

C

G

intronic

De novo

-

Trost2022 G

HSPG2

SP0052719

chr1:
22160354-22160354

G

A

exonic

De novo

synonymous SNV

NM_001291860
NM_005529

c.C10788T
c.C10785T

p.P3596P
p.P3595P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HSPG2

SP0014140

chr1:
22207303-22207303

C

T

exonic

De novo

nonsynonymous SNV

NM_001291860
NM_005529

c.G1847A
c.G1844A

p.R616H
p.R615H

12.91

3.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

HSPG2

AU059003

chr1:
22249451-22249451

C

T

intronic

De novo

-

Trost2022 G

HSPG2

SSC00193

chr1:
22199230-22199230

G

T

exonic

De novo

stopgain

NM_001291860
NM_005529

c.C3915A
c.C3912A

p.C1305X
p.C1304X

42.0

-

Fu2022 E
Lim2017 E

HSPG2

12763.p1

chr1:
22263991-22263991

C

G

upstream

De novo

-

Wilfert2021 G

HSPG2

11089.p1

chr1:
22162442-22162442

A

G

intronic

De novo

-

Turner2016 G

HSPG2

mAGRE3119

chr1:
22178283-22178283

C

T

splicing

Paternal

splicing

22.2

-

Cirnigliaro2023 G

HSPG2

mAGRE2382

chr1:
22149892-22149892

G

A

exonic

Paternal

stopgain

NM_001291860
NM_005529

c.C13096T
c.C13093T

p.R4366X
p.R4365X

53.0

1.0E-4

Cirnigliaro2023 G

HSPG2

NDAR_INVWK012EYC_wes1

chr1:
22174444-22174444

C

T

intronic

De novo

8.56

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HSPG2

36097

chr1:
22172681-22172681

A

C

exonic

De novo

nonsynonymous SNV

NM_001291860
NM_005529

c.T8387G
c.T8384G

p.V2796G
p.V2795G

13.36

-

Fu2022 E

HSPG2

4771021312387-C

chr1:
22207174-22207174

T

C

exonic

De novo

nonsynonymous SNV

NM_001291860
NM_005529

c.A1976G
c.A1973G

p.N659S
p.N658S

20.8

-

Fu2022 E

HSPG2

11442.p1

chr1:
22199230-22199230

G

T

exonic

De novo

stopgain

NM_001291860
NM_005529

c.C3915A
c.C3912A

p.C1305X
p.C1304X

42.0

-

Ji2016 E
Krumm2015 E
Zhou2022 GE

HSPG2

F10267-1

chr1:
22215188-22215188

C

G

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G

HSPG2

mAGRE2873

chr1:
22207221-22207221

G

C

exonic

Maternal

stopgain

NM_001291860
NM_005529

c.C1929G
c.C1926G

p.Y643X
p.Y642X

22.1

-

Cirnigliaro2023 G

HSPG2

mAGRE2872

chr1:
22207221-22207221

G

C

exonic

Maternal

stopgain

NM_001291860
NM_005529

c.C1929G
c.C1926G

p.Y643X
p.Y642X

22.1

-

Cirnigliaro2023 G

HSPG2

mAGRE3115

chr1:
22202171-22202171

C

A

exonic

De novo

nonsynonymous SNV

NM_001291860
NM_005529

c.G3256T
c.G3253T

p.D1086Y
p.D1085Y

11.12

-

Cirnigliaro2023 G

HSPG2

iHART2872

chr1:
22207221-22207221

G

C

exonic

Maternal

stopgain

NM_001291860
NM_005529

c.C1929G
c.C1926G

p.Y643X
p.Y642X

22.1

-

Ruzzo2019 G

HSPG2

AU1725302

chr1:
22163866-22163866

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

HSPG2

AU1860302

chr1:
22275220-22275220

C

T

intergenic

De novo

-

Yuen2017 G

HSPG2

iHART3119

chr1:
22178283-22178283

C

T

splicing

Paternal

splicing

22.2

-

Ruzzo2019 G

HSPG2

iHART2873

chr1:
22207221-22207221

G

C

exonic

Maternal

stopgain

NM_001291860
NM_005529

c.C1929G
c.C1926G

p.Y643X
p.Y642X

22.1

-

Ruzzo2019 G

HSPG2

iHART3115

chr1:
22202171-22202171

C

A

exonic

De novo

nonsynonymous SNV

NM_001291860
NM_005529

c.G3256T
c.G3253T

p.D1086Y
p.D1085Y

11.12

-

Ruzzo2019 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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