Variant Results

or

Results for "PLEC"

Variant Events: 48

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

PLEC

AU119A

chr8:
144990506-144990506

T

C

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.A13441G
c.A13417G
c.A13894G
c.A13387G
c.A13483G
c.A13495G
c.A13483G
c.A13564G

p.T4481A
p.T4473A
p.T4632A
p.T4463A
p.T4495A
p.T4499A
p.T4495A
p.T4522A

8.998

1.448E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PLEC

Chen2017:126

chr8:
144998708-144998708

G

A

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C5347T
c.C5323T
c.C5800T
c.C5293T
c.C5389T
c.C5401T
c.C5389T
c.C5470T

p.R1783C
p.R1775C
p.R1934C
p.R1765C
p.R1797C
p.R1801C
p.R1797C
p.R1824C

12.71

1.0E-4

Chen2017 E

PLEC

09C95484

chr8:
144997672-144997672

G

A

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C6383T
c.C6359T
c.C6836T
c.C6329T
c.C6425T
c.C6437T
c.C6425T
c.C6506T

p.A2128V
p.A2120V
p.A2279V
p.A2110V
p.A2142V
p.A2146V
p.A2142V
p.A2169V

10.2

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PLEC

Wang2023:54

chr8:
145049425-145049425

C

T

exonic

De novo

nonsynonymous SNV

NM_000445

c.G113A

p.R38Q

16.39

8.432E-6

Wang2023 E

PLEC

mAGRE4855

chr8:
144995554-144995554

G

A

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C8393T
c.C8369T
c.C8846T
c.C8339T
c.C8435T
c.C8447T
c.C8435T
c.C8516T

p.T2798M
p.T2790M
p.T2949M
p.T2780M
p.T2812M
p.T2816M
p.T2812M
p.T2839M

13.72

-

Cirnigliaro2023 G

PLEC

mAGRE5973

chr8:
144994641-144994642

CA

C

exonic

Paternal

frameshift deletion

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.9305delT
c.9281delT
c.9758delT
c.9251delT
c.9347delT
c.9359delT
c.9347delT
c.9428delT

p.L3102fs
p.L3094fs
p.L3253fs
p.L3084fs
p.L3116fs
p.L3120fs
p.L3116fs
p.L3143fs

-

Cirnigliaro2023 G

PLEC

Wang2023:639

chr8:
144997738-144997738

G

A

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C6317T
c.C6293T
c.C6770T
c.C6263T
c.C6359T
c.C6371T
c.C6359T
c.C6440T

p.S2106L
p.S2098L
p.S2257L
p.S2088L
p.S2120L
p.S2124L
p.S2120L
p.S2147L

6.681

4.062E-5

Wang2023 E

PLEC

SP0116067

chr8:
144995849-144995849

C

T

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G8098A
c.G8074A
c.G8551A
c.G8044A
c.G8140A
c.G8152A
c.G8140A
c.G8221A

p.A2700T
p.A2692T
p.A2851T
p.A2682T
p.A2714T
p.A2718T
p.A2714T
p.A2741T

2.103

1.686E-5

Fu2022 E
Zhou2022 GE

PLEC

1-0652-004

chr8:
144993914-144993914

C

T

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G10033A
c.G10009A
c.G10486A
c.G9979A
c.G10075A
c.G10087A
c.G10075A
c.G10156A

p.G3345S
p.G3337S
p.G3496S
p.G3327S
p.G3359S
p.G3363S
p.G3359S
p.G3386S

16.22

8.743E-6

Yuen2017 G
Zhou2022 GE

PLEC

SP0054638

chr8:
144993258-144993258

G

A

exonic

De novo

synonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C10689T
c.C10665T
c.C11142T
c.C10635T
c.C10731T
c.C10743T
c.C10731T
c.C10812T

p.G3563G
p.G3555G
p.G3714G
p.G3545G
p.G3577G
p.G3581G
p.G3577G
p.G3604G

-

7.628E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

PLEC

SP0113816

chr8:
145024426-145024426

G

A

exonic

De novo

nonsynonymous SNV

NM_201380

c.C449T

p.P150L

10.95

-

Fu2022 E
Zhou2022 GE

PLEC

SP0092081

chr8:
144999558-144999558

C

T

exonic

De novo

synonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G4497A
c.G4473A
c.G4950A
c.G4443A
c.G4539A
c.G4551A
c.G4539A
c.G4620A

p.A1499A
p.A1491A
p.A1650A
p.A1481A
p.A1513A
p.A1517A
p.A1513A
p.A1540A

-

2.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

PLEC

2-1814-003

chr8:
145010400-145010400

C

T

intronic

De novo

-

Trost2022 G

PLEC

SP0010086

chr8:
144993978-144993978

C

G

exonic

De novo

synonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G9969C
c.G9945C
c.G10422C
c.G9915C
c.G10011C
c.G10023C
c.G10011C
c.G10092C

p.T3323T
p.T3315T
p.T3474T
p.T3305T
p.T3337T
p.T3341T
p.T3337T
p.T3364T

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PLEC

1-1039-003

chr8:
145040556-145040556

C

G

intronic

De novo

-

Trost2022 G

PLEC

SP0000267

chr8:
144999449-144999449

G

A

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C4606T
c.C4582T
c.C5059T
c.C4552T
c.C4648T
c.C4660T
c.C4648T
c.C4729T

p.R1536W
p.R1528W
p.R1687W
p.R1518W
p.R1550W
p.R1554W
p.R1550W
p.R1577W

9.681

6.947E-5

Fu2022 E
Zhou2022 GE

PLEC

MSSNG00414-003

chr8:
145003791-145003791

G

A

intronic

De novo

-

6.0E-4

Trost2022 G

PLEC

SP0095651

chr8:
144998423-144998423

C

T

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G5632A
c.G5608A
c.G6085A
c.G5578A
c.G5674A
c.G5686A
c.G5674A
c.G5755A

p.E1878K
p.E1870K
p.E2029K
p.E1860K
p.E1892K
p.E1896K
p.E1892K
p.E1919K

14.12

6.595E-5

Fu2022 E
Zhou2022 GE

PLEC

Wang2023:165

chr8:
144994115-144994115

C

T

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G9832A
c.G9808A
c.G10285A
c.G9778A
c.G9874A
c.G9886A
c.G9874A
c.G9955A

p.V3278M
p.V3270M
p.V3429M
p.V3260M
p.V3292M
p.V3296M
p.V3292M
p.V3319M

8.842

8.355E-6

Wang2023 E

PLEC

SP0123468

chr8:
145004010-145004010

C

T

intronic

De novo

-

1.0E-4

Trost2022 G

PLEC

09C98909

chr8:
144995364-144995364

G

A

exonic

De novo

synonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C8583T
c.C8559T
c.C9036T
c.C8529T
c.C8625T
c.C8637T
c.C8625T
c.C8706T

p.P2861P
p.P2853P
p.P3012P
p.P2843P
p.P2875P
p.P2879P
p.P2875P
p.P2902P

-

4.0E-4

DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PLEC

SP0040294

chr8:
145009214-145009214

G

A

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C748T
c.C724T
c.C1201T
c.C694T
c.C790T
c.C802T
c.C790T
c.C871T

p.R250C
p.R242C
p.R401C
p.R232C
p.R264C
p.R268C
p.R264C
p.R291C

12.85

8.4E-6

Fu2022 E
Zhou2022 GE

PLEC

SP0010018

chr8:
145009202-145009202

C

T

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G760A
c.G736A
c.G1213A
c.G706A
c.G802A
c.G814A
c.G802A
c.G883A

p.V254M
p.V246M
p.V405M
p.V236M
p.V268M
p.V272M
p.V268M
p.V295M

10.06

-

Fu2022 E
Zhou2022 GE

PLEC

SP0122966

chr8:
145018170-145018170

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

PLEC

14442.p1

chr8:
144998504-144998504

G

A

exonic

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C5551T
c.C5527T
c.C6004T
c.C5497T
c.C5593T
c.C5605T
c.C5593T
c.C5674T

p.R1851C
p.R1843C
p.R2002C
p.R1833C
p.R1865C
p.R1869C
p.R1865C
p.R1892C

13.38

4.175E-5

Zhou2022 GE

PLEC

SP0006750

chr8:
145012884-145012884

C

T

intronic

De novo

-

Fu2022 E

PLEC

SP0047218

chr8:
144993563-144993563

C

T

exonic

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G10384A
c.G10360A
c.G10837A
c.G10330A
c.G10426A
c.G10438A
c.G10426A
c.G10507A

p.D3462N
p.D3454N
p.D3613N
p.D3444N
p.D3476N
p.D3480N
p.D3476N
p.D3503N

16.56

8.363E-6

Zhou2022 GE

PLEC

MSSNG00428-003

chr8:
144999227-144999227

G

A

exonic

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C4828T
c.C4804T
c.C5281T
c.C4774T
c.C4870T
c.C4882T
c.C4870T
c.C4951T

p.R1610C
p.R1602C
p.R1761C
p.R1592C
p.R1624C
p.R1628C
p.R1624C
p.R1651C

10.56

6.108E-5

Zhou2022 GE

PLEC

13214.p1

chr8:
144998683-144998683

C

T

exonic

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G5372A
c.G5348A
c.G5825A
c.G5318A
c.G5414A
c.G5426A
c.G5414A
c.G5495A

p.R1791H
p.R1783H
p.R1942H
p.R1773H
p.R1805H
p.R1809H
p.R1805H
p.R1832H

13.05

3.0E-4

Zhou2022 GE

PLEC

SP0052969

chr8:
145004585-145004585

G

A

exonic

De novo

synonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C2382T
c.C2358T
c.C2835T
c.C2328T
c.C2424T
c.C2436T
c.C2424T
c.C2505T

p.P794P
p.P786P
p.P945P
p.P776P
p.P808P
p.P812P
p.P808P
p.P835P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PLEC

SP0127375

chr8:
145004455-145004455

G

A

exonic

De novo

synonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C2427T
c.C2403T
c.C2880T
c.C2373T
c.C2469T
c.C2481T
c.C2469T
c.C2550T

p.H809H
p.H801H
p.H960H
p.H791H
p.H823H
p.H827H
p.H823H
p.H850H

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PLEC

SP0049936

chr8:
145004524-145004524

C

G

intronic

De novo

-

Fu2022 E
Trost2022 G

PLEC

22030.p1

chr8:
144992145-144992145

C

T

exonic

synonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G11802A
c.G11778A
c.G12255A
c.G11748A
c.G11844A
c.G11856A
c.G11844A
c.G11925A

p.S3934S
p.S3926S
p.S4085S
p.S3916S
p.S3948S
p.S3952S
p.S3948S
p.S3975S

-

1.0E-4

Zhou2022 GE

PLEC

200675762@1082034441

chr8:
144998708-144998708

G

A

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C5347T
c.C5323T
c.C5800T
c.C5293T
c.C5389T
c.C5401T
c.C5389T
c.C5470T

p.R1783C
p.R1775C
p.R1934C
p.R1765C
p.R1797C
p.R1801C
p.R1797C
p.R1824C

12.71

1.0E-4

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PLEC

SP0141690

chr8:
145004248-145004248

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

PLEC

AU054304

chr8:
145045043-145045043

G

A

intronic

De novo

-

Yuen2017 G

PLEC

200675762_1082034441

chr8:
144998708-144998708

G

A

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C5347T
c.C5323T
c.C5800T
c.C5293T
c.C5389T
c.C5401T
c.C5389T
c.C5470T

p.R1783C
p.R1775C
p.R1934C
p.R1765C
p.R1797C
p.R1801C
p.R1797C
p.R1824C

12.71

1.0E-4

Fu2022 E

PLEC

EGAN00001101317

chr8:
144990506-144990506

T

G

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.A13441C
c.A13417C
c.A13894C
c.A13387C
c.A13483C
c.A13495C
c.A13483C
c.A13564C

p.T4481P
p.T4473P
p.T4632P
p.T4463P
p.T4495P
p.T4499P
p.T4495P
p.T4522P

8.695

-

Fu2022 E

PLEC

JASD_Fam0107

chr8:
144995036-144995036

C

G

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G8911C
c.G8887C
c.G9364C
c.G8857C
c.G8953C
c.G8965C
c.G8953C
c.G9034C

p.E2971Q
p.E2963Q
p.E3122Q
p.E2953Q
p.E2985Q
p.E2989Q
p.E2985Q
p.E3012Q

10.32

-

Takata2018 E

PLEC

11185.p1

chr8:
145006189-145006189

C

T

exonic

synonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G2052A
c.G2028A
c.G2505A
c.G1998A
c.G2094A
c.G2106A
c.G2094A
c.G2175A

p.A684A
p.A676A
p.A835A
p.A666A
p.A698A
p.A702A
p.A698A
p.A725A

-

1.0E-4

Zhou2022 GE

PLEC

SP0017302

chr8:
144999996-144999996

G

A

exonic

De novo

synonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C4059T
c.C4035T
c.C4512T
c.C4005T
c.C4101T
c.C4113T
c.C4101T
c.C4182T

p.A1353A
p.A1345A
p.A1504A
p.A1335A
p.A1367A
p.A1371A
p.A1367A
p.A1394A

-

5.0E-4

Trost2022 G
Zhou2022 GE

PLEC

08C73296

chr8:
145006311-145006311

C

T

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G2027A
c.G2003A
c.G2480A
c.G1973A
c.G2069A
c.G2081A
c.G2069A
c.G2150A

p.R676Q
p.R668Q
p.R827Q
p.R658Q
p.R690Q
p.R694Q
p.R690Q
p.R717Q

10.82

2.812E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PLEC

AU2330301

chr8:
145006311-145006311

C

T

exonic

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G2027A
c.G2003A
c.G2480A
c.G1973A
c.G2069A
c.G2081A
c.G2069A
c.G2150A

p.R676Q
p.R668Q
p.R827Q
p.R658Q
p.R690Q
p.R694Q
p.R690Q
p.R717Q

10.82

2.812E-5

Zhou2022 GE

PLEC

013-07-107614

chr8:
144993782-144993782

G

A

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.C10165T
c.C10141T
c.C10618T
c.C10111T
c.C10207T
c.C10219T
c.C10207T
c.C10288T

p.R3389W
p.R3381W
p.R3540W
p.R3371W
p.R3403W
p.R3407W
p.R3403W
p.R3430W

4.099

2.0E-4

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PLEC

11815-1

chr8:
144995985-144995985

C

T

exonic

De novo

synonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G7962A
c.G7938A
c.G8415A
c.G7908A
c.G8004A
c.G8016A
c.G8004A
c.G8085A

p.E2654E
p.E2646E
p.E2805E
p.E2636E
p.E2668E
p.E2672E
p.E2668E
p.E2695E

-

Fu2022 E

PLEC

ASC_11524-1

chr8:
144999757-144999757

C

G

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G4298C
c.G4274C
c.G4751C
c.G4244C
c.G4340C
c.G4352C
c.G4340C
c.G4421C

p.R1433P
p.R1425P
p.R1584P
p.R1415P
p.R1447P
p.R1451P
p.R1447P
p.R1474P

7.099

-

Fu2022 E

PLEC

13759.p1

chr8:
144996005-144996005

C

T

exonic

De novo

nonsynonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G7942A
c.G7918A
c.G8395A
c.G7888A
c.G7984A
c.G7996A
c.G7984A
c.G8065A

p.G2648S
p.G2640S
p.G2799S
p.G2630S
p.G2662S
p.G2666S
p.G2662S
p.G2689S

13.12

-

Ji2016 E
Krumm2015 E

PLEC

1067_2013

chr8:
145005771-145005771

C

T

exonic

De novo

synonymous SNV

NM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445

c.G2193A
c.G2169A
c.G2646A
c.G2139A
c.G2235A
c.G2247A
c.G2235A
c.G2316A

p.L731L
p.L723L
p.L882L
p.L713L
p.L745L
p.L749L
p.L745L
p.L772L

-

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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