Variant Results

or

Results for "PARD3B"

Variant Events: 152

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

PARD3B

AU3076302

chr2:
205819012-205819012

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

08C74095

chr2:
206058041-206058041

C

T

exonic

Unknown

nonsynonymous SNV

NM_152526
NM_001302769
NM_057177
NM_205863

c.C1951T
c.C2137T
c.C2137T
c.C2137T

p.L651F
p.L713F
p.L713F
p.L713F

22.1

-

Stessman2017 T

PARD3B

2-1507-003

chr2:
205890788-205890788

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

2-1220-003

chr2:
206044843-206044843

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PARD3B

3-0018-000

chr2:
206434226-206434226

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

AU3912301

chr2:
205979337-205979337

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

2-1417-003

chr2:
205618343-205618343

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

AU1988301

chr2:
206013517-206013517

A

G

intronic

De novo

-

Yuen2017 G

PARD3B

1-0054-004

chr2:
205840458-205840458

C

CTGAATGG

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

1-0976-003

chr2:
205582725-205582725

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

1-0394-003

chr2:
205566604-205566604

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

2-0068-003

chr2:
205981695-205981695

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

1-0138-003

chr2:
205553626-205553626

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

AU2140306

chr2:
205927888-205927888

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

1-0547-003

chr2:
205755329-205755329

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

M17490

chr2:
205969147-205969148

TA

TTA

intronic

Inherited

-

Stessman2017 T

PARD3B

1-0186-005

chr2:
206080396-206080396

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

1-0186-005

chr2:
205781133-205781133

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

2-1436-003

chr2:
206542233-206542233

G

A

intergenic

De novo

-

Yuen2017 G

PARD3B

5-0041-003

chr2:
206176879-206176879

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

SP0050898

chr2:
206165375-206165375

G

A

exonic

De novo

synonymous SNV

NM_152526
NM_001302769
NM_205863

c.G2121A
c.G2307A
c.G2307A

p.P707P
p.P769P
p.P769P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PARD3B

1-0701-003

chr2:
206196991-206196991

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

AU2292301

chr2:
206323108-206323108

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

2-0298-003

chr2:
206507627-206507627

A

ACC

intergenic

De novo

-

Yuen2017 G

PARD3B

1-0344-003

chr2:
205666926-205666926

T

A

intronic

De novo

-

Yuen2017 G

PARD3B

M20250

chr2:
205550908-205550908

C

T

exonic

Unknown

nonsynonymous SNV

NM_001302769
NM_057177
NM_152526
NM_205863

c.C125T
c.C125T
c.C125T
c.C125T

p.P42L
p.P42L
p.P42L
p.P42L

19.36

-

Stessman2017 T

PARD3B

2-1441-003

chr2:
205527781-205527781

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PARD3B

3-0307-000

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

AU030103

chr2:
205562845-205562845

C

T

intronic

De novo

-

Yuen2017 G

PARD3B

2-1386-003

chr2:
205503702-205503703

CT

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PARD3B

403-09-112235

chr2:
206480585-206480585

C

T

UTR3

De novo

-

Satterstrom2020 E
Trost2022 G

PARD3B

1-0372-003

chr2:
206247858-206247858

A

C

intronic

De novo

-

Yuen2017 G

PARD3B

5-0077-004

chr2:
206127144-206127144

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

AU2427303

chr2:
205572160-205572160

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

1-0526-003

chr2:
205542042-205542042

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

1-0582-003

chr2:
206101863-206101863

G

C

intronic

De novo

-

Yuen2017 G

PARD3B

2-0244-003

chr2:
205738734-205738734

C

T

intronic

De novo

-

Yuen2017 G

PARD3B

1-0651-003

chr2:
206535628-206535628

C

G

intergenic

De novo

-

Yuen2017 G

PARD3B

2-1605-003

chr2:
205665822-205665822

G

GTT

intronic

De novo

-

Yuen2017 G

PARD3B

1-0184-003

chr2:
205899729-205899729

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

AU3859301

chr2:
205992862-205992862

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

13982.p1

chr2:
206480234-206480234

C

G

exonic

De novo

stopgain

NM_057177
NM_152526
NM_205863
NM_001302769

c.C3108G
c.C3129G
c.C3012G
c.C3315G

p.Y1036X
p.Y1043X
p.Y1004X
p.Y1105X

36.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PARD3B

2-1251-003

chr2:
206388113-206388113

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

M20709

Complex Event; expand row to view variants

Paternal

splicing

-

Guo2018 T
Stessman2017 T
Wang2016 T

PARD3B

M14996

Complex Event; expand row to view variants

Paternal

frameshift deletion, nonframeshift deletion

NM_001302769
NM_057177
NM_152526
NM_205863
NM_001302769
NM_057177
NM_152526
NM_205863

c.597_598del
c.597_598del
c.597_598del
c.597_598del
c.595_597del
c.595_597del
c.595_597del
c.595_597del

p.D199fs
p.D199fs
p.D199fs
p.D199fs
p.199_199del
p.199_199del
p.199_199del
p.199_199del

-

Guo2018 T
Stessman2017 T
Wang2016 T

PARD3B

AU2525302

chr2:
205952054-205952054

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

3-0428-000

chr2:
206464143-206464143

G

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PARD3B

1-0482-003

chr2:
206099003-206099003

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PARD3B

AU2292302

chr2:
206323108-206323108

G

T

intronic

De novo

-

Yuen2017 G

PARD3B

212-21035-1

chr2:
206057978-206057978

A

T

exonic

Paternal

stopgain

NM_152526
NM_001302769
NM_057177
NM_205863

c.A1888T
c.A2074T
c.A2074T
c.A2074T

p.R630X
p.R692X
p.R692X
p.R692X

39.0

-

Stessman2017 T

PARD3B

2-1329-003

chr2:
205867642-205867642

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PARD3B

1-0323-004

chr2:
205970005-205970005

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

1-0804-003

chr2:
206258556-206258556

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

1-0448-003

chr2:
205741907-205741907

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

5-0106-003

chr2:
205857181-205857181

C

T

intronic

De novo

-

Yuen2017 G

PARD3B

1-0395-003

chr2:
205665822-205665822

G

GTT

intronic

De novo

-

Yuen2017 G

PARD3B

03C16945

chr2:
206057982-206057983

CT

C

exonic

De novo

frameshift deletion

NM_152526
NM_001302769
NM_057177
NM_205863

c.1893delT
c.2079delT
c.2079delT
c.2079delT

p.S631fs
p.S693fs
p.S693fs
p.S693fs

-

Stessman2017 T

PARD3B

M23278

chr2:
206023530-206023530

G

A

exonic

Maternal

nonsynonymous SNV

NM_001302769
NM_057177
NM_205863

c.G1519A
c.G1519A
c.G1519A

p.A507T
p.A507T
p.A507T

35.0

8.281E-6

Guo2018 T
Wang2016 T

PARD3B

SSC09687

chr2:
206480234-206480234

C

G

exonic

De novo

stopgain

NM_057177
NM_152526
NM_205863
NM_001302769

c.C3108G
c.C3129G
c.C3012G
c.C3315G

p.Y1036X
p.Y1043X
p.Y1004X
p.Y1105X

36.0

-

Lim2017 E
Trost2022 G

PARD3B

AU2975302

chr2:
205904217-205904217

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

AU2100302

chr2:
206162170-206162170

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

1-0585-003

chr2:
205571979-205571979

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

215-13254-2803

chr2:
206480386-206480386

G

C

exonic

Unknown

nonsynonymous SNV

NM_057177
NM_152526
NM_205863
NM_001302769

c.G3260C
c.G3281C
c.G3164C
c.G3467C

p.R1087P
p.R1094P
p.R1055P
p.R1156P

15.99

8.293E-6

Stessman2017 T

PARD3B

1-0555-003

chr2:
205574149-205574149

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

3-0391-000

chr2:
206205381-206205381

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

A24

chr2:
206307738-206307738

A

T

intronic

De novo

-

Wu2018 G

PARD3B

GX0312.p1

chr2:
205990451-205990451

C

T

exonic

Paternal

nonsynonymous SNV

NM_001302769
NM_057177
NM_152526
NM_205863

c.C1424T
c.C1424T
c.C1424T
c.C1424T

p.P475L
p.P475L
p.P475L
p.P475L

32.0

8.298E-6

Guo2018 T

PARD3B

AU4463303

chr2:
206394800-206394800

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

2-1287-003

chr2:
205523331-205523331

G

A

intronic

De novo

-

Trost2022 G

PARD3B

2-1458-003

chr2:
205537085-205537085

C

G

intronic

De novo

-

Trost2022 G

PARD3B

7-0351-004

chr2:
205506661-205506661

A

T

intronic

De novo

-

Trost2022 G

PARD3B

AU3124302

chr2:
206330234-206330234

C

T

intronic

De novo

-

Yuen2017 G

PARD3B

AU2817301

chr2:
205515818-205515818

C

T

intronic

De novo

-

Trost2022 G

PARD3B

7-0462-004

chr2:
205417588-205417588

A

G

intronic

De novo

-

Trost2022 G

PARD3B

1-0207-005

chr2:
205481967-205481967

C

T

intronic

De novo

-

Trost2022 G

PARD3B

AU4463303

chr2:
205429224-205429224

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

REACH000058

chr2:
205637875-205637875

G

T

intronic

De novo

-

Trost2022 G

PARD3B

REACH000284

chr2:
205652083-205652083

T

A

intronic

De novo

-

Trost2022 G

PARD3B

1-0670-003

chr2:
205599163-205599163

A

G

intronic

De novo

-

Trost2022 G

PARD3B

MSSNG00171-003

chr2:
205603235-205603235

A

G

intronic

De novo

-

Trost2022 G

PARD3B

REACH000467

chr2:
205588470-205588470

T

C

intronic

De novo

-

Trost2022 G

PARD3B

M16241

chr2:
206037007-206037007

G

A

exonic

Inherited

nonsynonymous SNV

NM_152526
NM_001302769
NM_057177
NM_205863

c.G1507A
c.G1693A
c.G1693A
c.G1693A

p.E503K
p.E565K
p.E565K
p.E565K

31.0

4.141E-5

Wang2016 T

PARD3B

3-0666-001

chr2:
205590721-205590721

G

A

intronic

De novo

-

Trost2022 G

PARD3B

3-0005-000

chr2:
205548819-205548819

G

T

intronic

De novo

-

Trost2022 G

PARD3B

2-1823-003

chr2:
205582268-205582268

G

A

intronic

De novo

-

Trost2022 G

PARD3B

2-1528-003

chr2:
205794075-205794075

G

A

intronic

De novo

-

Trost2022 G

PARD3B

MSSNG00430-003

chr2:
205801582-205801582

G

A

intronic

De novo

-

Trost2022 G

PARD3B

2-1254-003

chr2:
205972296-205972296

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PARD3B

5-0001-003

chr2:
205742385-205742385

A

G

intronic

De novo

-

Trost2022 G

PARD3B

2-1605-004

chr2:
205617276-205617276

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

1-0088-003

chr2:
205747459-205747459

T

C

intronic

De novo

-

Trost2022 G

PARD3B

1-1036-003

chr2:
205700538-205700538

G

C

intronic

De novo

-

Trost2022 G

PARD3B

2-0307-003

chr2:
205702797-205702799

TGA

AGG

intronic

De novo

-

Trost2022 G

PARD3B

1-0054-003

chr2:
205840458-205840458

C

CTGAATGG

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

MSSNG00055-003

chr2:
205688086-205688086

T

A

intronic

De novo

-

Trost2022 G

PARD3B

2-1451-004

chr2:
206452498-206452498

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

4-0073-003

chr2:
205689567-205689567

C

T

intronic

De novo

-

Trost2022 G

PARD3B

2-1290-004

chr2:
206257823-206257823

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

REACH000697

chr2:
205910584-205910584

T

C

intronic

De novo

-

Trost2022 G

PARD3B

1-0565-003

chr2:
206287447-206287447

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

5-0021-003

chr2:
206037439-206037439

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

MT_160.4

chr2:
205917825-205917825

C

A

intronic

De novo

-

Trost2022 G

PARD3B

1-0568-003

chr2:
205665822-205665822

G

GTT

intronic

De novo

-

Yuen2017 G

PARD3B

AU026412

chr2:
206543303-206543303

A

T

intergenic

De novo

-

Yuen2017 G

PARD3B

AU2216201

chr2:
205874211-205874211

A

G

intronic

De novo

-

Trost2022 G

PARD3B

AU2283301

chr2:
205877130-205877130

G

T

intronic

De novo

-

Trost2022 G

PARD3B

5-0085-003

chr2:
205840822-205840822

C

A

intronic

De novo

-

Trost2022 G

PARD3B

MSSNG00029-003

chr2:
205853756-205853756

G

T

intronic

De novo

-

Trost2022 G

PARD3B

AU2283301

chr2:
205817379-205817379

G

A

intronic

De novo

-

Trost2022 G

PARD3B

3-0604-000

chr2:
205838867-205838867

A

G

intronic

De novo

-

Trost2022 G

PARD3B

REACH000569

chr2:
206007659-206007659

G

GT

intronic

De novo

-

Trost2022 G

PARD3B

MSSNG00421-009

chr2:
206027540-206027540

G

A

intronic

De novo

-

Trost2022 G

PARD3B

3-0208-000

chr2:
205993403-205993403

T

G

intronic

De novo

-

Trost2022 G

PARD3B

MSSNG00049-003

chr2:
205997147-205997147

C

A

intronic

De novo

-

Trost2022 G

PARD3B

REACH000454

chr2:
205972512-205972512

A

C

intronic

De novo

-

Trost2022 G

PARD3B

5-0002-003

chr2:
205992911-205992913

CAG

C

intronic

De novo

-

Trost2022 G

PARD3B

MSSNG00399-003

chr2:
205922255-205922257

CAT

C

intronic

De novo

-

Trost2022 G

PARD3B

SJD_8.4

chr2:
205958273-205958273

C

T

intronic

De novo

-

Trost2022 G

PARD3B

4-0062-003

chr2:
206135417-206135418

GG

CT

intronic

De novo

-

Trost2022 G

PARD3B

1-0738-003

chr2:
206138519-206138519

C

T

intronic

De novo

-

Trost2022 G

PARD3B

MSSNG00329-003

chr2:
206080028-206080039

CCTGTAAAGTTA

C

intronic

De novo

-

Trost2022 G

PARD3B

MSSNG00354-004

chr2:
206095670-206095670

C

T

intronic

De novo

-

Trost2022 G

PARD3B

2-1766-003

chr2:
206048152-206048152

A

G

intronic

De novo

-

Trost2022 G

PARD3B

2-0144-004

chr2:
205665822-205665822

G

GTT

intronic

De novo

-

Yuen2017 G

PARD3B

SJD_34.3

chr2:
206061771-206061771

G

A

intronic

De novo

-

Trost2022 G

PARD3B

7-0080-003

chr2:
205414107-205414107

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

MSSNG00015-003

chr2:
206034740-206034740

C

T

intronic

De novo

-

Trost2022 G

PARD3B

2-1733-003

chr2:
206041704-206041704

A

G

intronic

De novo

-

Trost2022 G

PARD3B

MT_35.3

chr2:
206230781-206230781

C

T

intronic

De novo

-

Trost2022 G

PARD3B

2-1174-006

chr2:
206232903-206232907

ATGAT

A

intronic

De novo

-

Trost2022 G

PARD3B

MSSNG00378-003

chr2:
206211380-206211380

T

TAAG

intronic

De novo

-

Trost2022 G

PARD3B

REACH000214

chr2:
206215617-206215617

G

A

intronic

De novo

-

Trost2022 G

PARD3B

SP0147167

chr2:
206166297-206166297

C

CA

exonic

De novo

frameshift insertion

NM_057177
NM_152526
NM_001302769
NM_205863

c.2296dupA
c.2317dupA
c.2503dupA
c.2503dupA

p.V765fs
p.V772fs
p.V834fs
p.V834fs

-

8.324E-6

Trost2022 G

PARD3B

2-1194-003

chr2:
205617783-205617783

A

G

intronic

De novo

-

Yuen2017 G

PARD3B

5-0020-003

chr2:
206203252-206203252

A

G

intronic

De novo

-

Trost2022 G

PARD3B

7-0438-003

chr2:
206143833-206143833

G

T

intronic

De novo

-

Trost2022 G

PARD3B

7-0371-004

chr2:
206165204-206165204

C

T

intronic

De novo

-

Trost2022 G

PARD3B

1-0708-003

chr2:
205723740-205723747

TTATTCTC

T

intronic

De novo

-

Yuen2017 G

PARD3B

3-0199-000

chr2:
206359756-206359756

A

G

intronic

De novo

-

Trost2022 G

PARD3B

AU2622301

chr2:
206366613-206366613

G

T

intronic

De novo

-

Trost2022 G

PARD3B

1-0338-005

chr2:
206297974-206297974

A

G

intronic

De novo

-

Trost2022 G

PARD3B

REACH000504

chr2:
206341934-206341934

T

A

intronic

De novo

-

Trost2022 G

PARD3B

7-0311-003

chr2:
206242641-206242641

C

T

intronic

De novo

-

Trost2022 G

PARD3B

7-0174-003

chr2:
206354843-206354843

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PARD3B

2-0725-003

chr2:
206265178-206265178

A

G

intronic

De novo

-

Trost2022 G

PARD3B

2-1174-006

chr2:
206232911-206232915

AGTGG

A

intronic

De novo

-

Trost2022 G

PARD3B

MSSNG00003-003

chr2:
206239376-206239376

C

T

intronic

De novo

-

Trost2022 G

PARD3B

1-1084-003

chr2:
206472575-206472575

C

T

intronic

De novo

-

Trost2022 G

PARD3B

REACH000141

chr2:
206457280-206457293

GTGATTAAATACAA

G

intronic

De novo

-

Trost2022 G

PARD3B

2-1774-003

chr2:
206472293-206472293

C

A

intronic

De novo

-

Trost2022 G

PARD3B

3-0497-000

chr2:
206417982-206417982

G

A

intronic

De novo

-

Trost2022 G

PARD3B

MT_35.3

chr2:
206424569-206424569

C

T

intronic

De novo

-

Trost2022 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