Variant Results

or

Results for "PRKN"

Variant Events: 167

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

PRKN

1-0169-004

chr6:
162140286-162140286

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

1-0375-003

chr6:
162364665-162364665

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PRKN

1-0661-003

chr6:
162129267-162129267

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

2-1131-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PRKN

2-1526-003

chr6:
162978550-162978550

T

TTGTTTGTTTTTTTGTTTTCTGTTTTC

intronic

De novo

-

Yuen2017 G

PRKN

1-0465-003a

chr6:
161791344-161791344

C

A

intronic

De novo

-

Yuen2017 G

PRKN

1-0454-003

chr6:
162898710-162898710

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PRKN

AU4379301

chr6:
163134924-163134924

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

7-0192-003

chr6:
162521888-162521888

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU2988302

chr6:
161906160-161906160

A

C

intronic

De novo

-

Yuen2017 G

PRKN

1-0440-003

chr6:
161865632-161865632

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

5-0050-004

chr6:
162534970-162534970

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

2-1368-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

PRKN

2-1715-004

chr6:
162467131-162467131

A

AAGCAC

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

13942.p1

chr6:
162251322-162251322

T

G

intronic

De novo

-

Turner2016 G

PRKN

11002.p1

chr6:
162910813-162910813

C

T

intronic

De novo

-

Turner2016 G

PRKN

2-0198-005

chr6:
161877350-161877350

G

A

intronic

De novo

-

Yuen2017 G

PRKN

mAGRE4873

chr6:
162394394-162394395

GC

G

exonic

Maternal

frameshift deletion

NM_013988
NM_013987
NM_004562

c.226delG
c.589delG
c.673delG

p.A76fs
p.A197fs
p.A225fs

-

Cirnigliaro2023 G

PRKN

mAGRE4872

chr6:
162394394-162394395

GC

G

exonic

Maternal

frameshift deletion

NM_013988
NM_013987
NM_004562

c.226delG
c.589delG
c.673delG

p.A76fs
p.A197fs
p.A225fs

-

Cirnigliaro2023 G

PRKN

13023.p1

chr6:
161807709-161807709

C

T

intronic

De novo

-

Turner2016 G

PRKN

2-0304-004

chr6:
162833828-162833828

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

2-1509-003

chr6:
162957640-162957640

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

1-0465-003A

chr6:
161791344-161791344

C

A

intronic

De novo

-

Trost2022 G

PRKN

2-1086-003

chr6:
161795806-161795807

AA

GTGTGAT

intronic

De novo

-

Trost2022 G

PRKN

REACH000537

chr6:
161779108-161779108

C

T

intronic

De novo

-

Trost2022 G

PRKN

1-0336-003

chr6:
161894839-161894839

T

C

intronic

De novo

-

Yuen2017 G

PRKN

14-1775

chr6:
161783211-161783211

G

A

intronic

De novo

-

Trost2022 G

PRKN

1-0271-003

chr6:
162655204-162655204

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

2-0202-003

chr6:
161770676-161770676

C

T

UTR3

De novo

-

Trost2022 G

PRKN

AU2193301

chr6:
161906609-161906609

G

A

intronic

De novo

-

Trost2022 G

PRKN

2-1458-003

chr6:
161918885-161918885

G

A

intronic

De novo

-

Trost2022 G

PRKN

2-0713-003

chr6:
162896543-162896543

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

MT_178.4

chr6:
161845890-161845890

G

A

intronic

De novo

-

Trost2022 G

PRKN

1-0571-003

chr6:
162291232-162291232

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

2-1358-003

chr6:
162471745-162471745

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

5-5237-005

chr6:
161848677-161848677

T

C

intronic

De novo

-

Trost2022 G

PRKN

SJD_58.4

chr6:
161836967-161836967

C

T

intronic

De novo

-

Trost2022 G

PRKN

7-0461-003

chr6:
161837341-161837341

G

A

intronic

De novo

-

Trost2022 G

PRKN

2-1086-003

chr6:
161795810-161795812

TTC

GTG

intronic

De novo

-

Trost2022 G

PRKN

3-0749-000A

chr6:
161833060-161833060

T

C

intronic

De novo

-

Trost2022 G

PRKN

1-0731-003

chr6:
162020149-162020149

C

T

intronic

De novo

-

Trost2022 G

PRKN

1-1155-003

chr6:
162021369-162021369

C

T

intronic

De novo

-

Trost2022 G

PRKN

MSSNG00333-003

chr6:
161992832-161992832

C

T

intronic

De novo

-

Trost2022 G

PRKN

2-1430-003

chr6:
162704802-162704802

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PRKN

1-1137-003

chr6:
162016679-162016679

T

C

intronic

De novo

-

Trost2022 G

PRKN

4-0062-003

chr6:
161959192-161959192

G

A

intronic

De novo

-

Trost2022 G

PRKN

5-5030-003

chr6:
161961096-161961096

G

A

intronic

De novo

-

Trost2022 G

PRKN

MSSNG00027-003

chr6:
161937616-161937616

T

C

intronic

De novo

-

Trost2022 G

PRKN

REACH000224

chr6:
161958683-161958683

C

G

intronic

De novo

-

Trost2022 G

PRKN

7-0215-003

chr6:
162144178-162144178

T

G

intronic

De novo

-

Trost2022 G

PRKN

3-0498-000

chr6:
162151809-162151824

TGTGTTGCATTCTGAA

T

intronic

De novo

-

Trost2022 G

PRKN

5-1012-003

chr6:
162104101-162104101

G

A

intronic

De novo

-

Trost2022 G

PRKN

1-0052-003

chr6:
162099473-162099473

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

REACH000686

chr6:
162142730-162142730

G

A

intronic

De novo

-

Trost2022 G

PRKN

2-0007-004

chr6:
161914093-161914093

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

2-0045-003

chr6:
162177013-162177013

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PRKN

2-1243-003

chr6:
162077432-162077432

G

A

intronic

De novo

-

Trost2022 G

PRKN

AU2793303

chr6:
163048435-163048435

T

G

intronic

De novo

-

Yuen2017 G

PRKN

2-1066-003

chr6:
162077432-162077432

G

A

intronic

De novo

-

Trost2022 G

PRKN

AU004403

chr6:
162040621-162040621

T

G

intronic

De novo

-

Trost2022 G

PRKN

7-0295-003

chr6:
162059966-162059966

G

A

intronic

De novo

-

Trost2022 G

PRKN

2-1451-003

chr6:
162328777-162328777

C

A

intronic

De novo

-

Trost2022 G

PRKN

3-0336-000

chr6:
162333936-162333936

C

T

intronic

De novo

-

Trost2022 G

PRKN

3-0783-000

chr6:
162223053-162223053

C

T

intronic

De novo

-

Trost2022 G

PRKN

1-0277-003

chr6:
162165834-162165834

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PRKN

AU055603

chr6:
162264485-162264485

A

C

intronic

De novo

-

Trost2022 G

PRKN

MT_47.3

chr6:
162219173-162219173

C

T

intronic

De novo

-

Trost2022 G

PRKN

4-0062-003

chr6:
162221001-162221003

GCA

TTC

intronic

De novo

-

Trost2022 G

PRKN

AU4426303

chr6:
162678180-162678180

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

2-1423-003

chr6:
162192574-162192574

C

T

intronic

De novo

-

Trost2022 G

PRKN

7-0017-003A

chr6:
162210654-162210654

T

G

intronic

De novo

-

Trost2022 G

PRKN

5-1003-003

chr6:
162564189-162564190

GA

TT

intronic

De novo

-

Trost2022 G

PRKN

AU4060306

chr6:
163066793-163066793

C

T

intronic

De novo

-

Yuen2017 G

PRKN

MT_12.3

chr6:
162588181-162588181

G

A

intronic

De novo

-

Trost2022 G

PRKN

1-1071-003

chr6:
162526144-162526144

C

T

intronic

De novo

-

Trost2022 G

PRKN

REACH000405

chr6:
162549729-162549729

C

T

intronic

De novo

-

Trost2022 G

PRKN

AU4356302

chr6:
163028351-163028351

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

3-0787-000

chr6:
162450772-162450772

G

A

intronic

De novo

-

Trost2022 G

PRKN

1033

chr6:
162515243-162515243

T

A

intronic

De novo

-

Trost2022 G

PRKN

MSSNG00122-003

chr6:
162415205-162415205

C

T

intronic

De novo

-

Trost2022 G

PRKN

AU3900302

chr6:
162426035-162426035

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

MT_12.3

chr6:
162428569-162428569

C

T

intronic

De novo

-

Trost2022 G

PRKN

REACH000101

chr6:
162681978-162681978

T

C

intronic

De novo

-

Trost2022 G

PRKN

AU030103

chr6:
162734613-162734613

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

3-0650-000

chr6:
162697347-162697347

G

A

intronic

De novo

-

Trost2022 G

PRKN

AU3913302

chr6:
163036652-163036652

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

2-1294-004

chr6:
162674792-162674796

TTATT

AAAAAA

intronic

De novo

-

Trost2022 G

PRKN

1-0183-004

chr6:
162674792-162674796

TTATT

AAAAAAAA

intronic

De novo

-

Trost2022 G

PRKN

2-1753-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

PRKN

7-0423-003

chr6:
162668822-162668822

T

C

intronic

De novo

-

Trost2022 G

PRKN

AU2988303

chr6:
161906160-161906160

A

C

intronic

De novo

-

Yuen2017 G

PRKN

1-0410-003

chr6:
162609406-162609406

G

A

intronic

De novo

-

Trost2022 G

PRKN

1-0188-003

chr6:
162636402-162636402

C

T

intronic

De novo

-

Trost2022 G

PRKN

1-0595-004

chr6:
162882329-162882331

TTG

ATC

intronic

De novo

-

Trost2022 G

PRKN

1-0595-005

chr6:
162882349-162882351

CAT

AAC

intronic

De novo

-

Trost2022 G

PRKN

3-0294-000

chr6:
162748541-162748541

G

T

intronic

De novo

-

Trost2022 G

PRKN

7-0462-004

chr6:
162852334-162852334

A

G

intronic

De novo

-

Trost2022 G

PRKN

5-5130-003

chr6:
162742430-162742430

C

T

intronic

De novo

-

Trost2022 G

PRKN

AU3891303

chr6:
163102394-163102394

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

2-1105-003

chr6:
162748541-162748541

G

T

intronic

De novo

-

Trost2022 G

PRKN

2-1430-003A

chr6:
162704802-162704802

C

T

intronic

De novo

-

Trost2022 G

PRKN

1-0412-003

chr6:
162725095-162725108

ATCATTACCTCTGT

TTTTCAGGTTTTTA

intronic

De novo

-

Trost2022 G

PRKN

1-1138-003

chr6:
162925526-162925526

G

A

intronic

De novo

-

Trost2022 G

PRKN

2-1172-003A

chr6:
162958032-162958037

AATTAT

A

intronic

De novo

-

Trost2022 G

PRKN

1-0206-004

chr6:
162882851-162882851

T

C

intronic

De novo

-

Trost2022 G

PRKN

AU3052302

chr6:
162910480-162910480

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU3906301

chr6:
161800753-161800753

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU4314302

chr6:
162897929-162897929

G

A

intronic

De novo

-

Trost2022 G

PRKN

1-0901-004

chr6:
162882511-162882512

AG

GC

intronic

De novo

-

Trost2022 G

PRKN

1-0206-004

chr6:
162882842-162882844

GCT

AGC

intronic

De novo

-

Trost2022 G

PRKN

7-0148-003

chr6:
162934593-162934593

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

1-0354-003

chr6:
162882354-162882355

CA

TG

intronic

De novo

-

Trost2022 G

PRKN

4-0049-003

chr6:
162882448-162882451

CACT

GGCG

intronic

De novo

-

Trost2022 G

PRKN

2-1194-003

chr6:
162864099-162864099

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PRKN

REACH000435

chr6:
163086762-163086762

C

G

intronic

De novo

-

Trost2022 G

PRKN

MSSNG00382-003

chr6:
163145215-163145215

A

G

intronic

De novo

-

Trost2022 G

PRKN

7-0344-003

chr6:
163040491-163040491

G

T

intronic

De novo

-

Trost2022 G

PRKN

AU3906301

chr6:
163072151-163072159

CTTTGTTTG

C

intronic

De novo

-

Trost2022 G

PRKN

14-1775

chr6:
163016477-163016477

G

A

intronic

De novo

-

Trost2022 G

PRKN

1-0714-003

chr6:
163021950-163021950

T

C

intronic

De novo

-

Trost2022 G

PRKN

3-0034-000

chr6:
162962356-162962356

A

G

intronic

De novo

-

Trost2022 G

PRKN

3-0185-000

chr6:
162028890-162028890

C

T

intronic

De novo

-

Yuen2017 G

PRKN

2-1408-003

chr6:
162989751-162989752

GG

TT

intronic

De novo

-

Trost2022 G

PRKN

AU017703

chr6:
163007092-163007092

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU003403

chr6:
162092167-162092167

G

A

intronic

De novo

-

Yuen2017 G

PRKN

AU047904

chr6:
161898442-161898442

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

2-1290-003

chr6:
162320418-162320418

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

3-0111-000

chr6:
162685767-162685767

C

A

intronic

De novo

-

Yuen2016 G

PRKN

2-0116-005

chr6:
161829870-161829870

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

5-0014-004

chr6:
163000754-163000756

TCA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU3154301

chr6:
162407369-162407369

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

1-0572-003

chr6:
162228807-162228807

A

G

intronic

De novo

-

Yuen2017 G

PRKN

AU3702306

chr6:
163064787-163064787

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU4199303

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU4072303

chr6:
161987912-161987912

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU3918302

chr6:
162398361-162398361

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU3918302

chr6:
162843703-162843703

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU4359301

chr6:
161894131-161894131

A

C

intronic

De novo

-

Yuen2017 G

PRKN

AU4444304

chr6:
162871860-162871860

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

1-0022-003

chr6:
162517582-162517582

G

A

intronic

De novo

-

Yuen2016 G

PRKN

AU4233301

chr6:
162601725-162601725

G

C

intronic

De novo

-

Yuen2017 G

PRKN

1-0465-003

chr6:
161791344-161791344

C

A

intronic

De novo

-

Yuen2017 G

PRKN

AU074503

chr6:
161900319-161900319

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

1-0459-003

chr6:
162776763-162776763

T

C

intronic

De novo

-

Yuen2017 G

PRKN

AU030104

chr6:
162734613-162734613

G

A

intronic

De novo

-

Yuen2017 G

PRKN

2-1338-003

chr6:
162650298-162650298

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU1668302

chr6:
162316903-162316903

G

T

intronic

De novo

-

Yuen2017 G

PRKN

2-1398-003

chr6:
162254791-162254791

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

7-0133-003

chr6:
162284394-162284394

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU011704

chr6:
162117123-162117123

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

74-0117

chr6:
162117123-162117123

C

T

intronic

De novo

-

Michaelson2012 G

PRKN

2-0198-004

chr6:
161877350-161877350

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

1-0121-003

chr6:
162986132-162986132

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

2-1508-004

chr6:
162882363-162882363

A

G

intronic

De novo

-

Yuen2017 G

PRKN

2-0299-005

chr6:
162650719-162650719

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU4479301

chr6:
161990438-161990438

G

A

exonic

De novo

synonymous SNV

NM_013988
NM_013987
NM_004562

c.C435T
c.C798T
c.C882T

p.P145P
p.P266P
p.P294P

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

PRKN

2-1280-003

chr6:
162648231-162648231

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PRKN

1-0153-005

chr6:
162882255-162882255

T

C

intronic

De novo

-

Yuen2017 G

PRKN

1-0329-004

chr6:
162198058-162198058

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU2495301

chr6:
162437820-162437820

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU072504

chr6:
162657078-162657078

C

G

intronic

De novo

-

Yuen2017 G

PRKN

1-0559-005

chr6:
161918224-161918224

C

T

intronic

De novo

-

Yuen2017 G

PRKN

2-1290-004

chr6:
162131006-162131006

C

CAG

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

1-1004-003

chr6:
162962913-162962913

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

AU4219302

chr6:
162215228-162215228

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKN

2-1411-003

chr6:
162418261-162418261

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PRKN

AU3937301

chr6:
161915553-161915553

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 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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