Variant Results

or

Results for "PLEC"

Variant Events: 11

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

AU054304

chr8:
145045043-145045043

G

A

intronic

De novo

-

Yuen2017 G

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

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

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

Satterstrom2020 E

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

Satterstrom2020 E

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

-

Satterstrom2020 E

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

Satterstrom2020 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

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

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

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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