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Results for "PLEC"

Variant Events: 31

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     AU119Achr8:
144990506-144990506		TCexonicDe novononsynonymous SNVNM_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		8.9981.448E-5Fu2022 E
Satterstrom2020 E
PLEC     Chen2017:126chr8:
144998708-144998708		GAexonicDe novononsynonymous SNVNM_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		12.711.0E-4Chen2017 E
PLEC     09C95484chr8:
144997672-144997672		GAexonicDe novononsynonymous SNVNM_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
PLEC     SP0116067chr8:
144995849-144995849		CTexonicDe novononsynonymous SNVNM_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		2.1031.686E-5Fu2022 E
PLEC     1-0652-004chr8:
144993914-144993914		CTexonicDe novononsynonymous SNVNM_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		16.228.743E-6Yuen2017 G
PLEC     SP0054638chr8:
144993258-144993258		GAexonicDe novosynonymous SNVNM_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-5Fu2022 E
PLEC     SP0113816chr8:
145024426-145024426		GAexonicDe novononsynonymous SNVNM_201380c.C449Tp.P150L10.95-Fu2022 E
PLEC     SP0092081chr8:
144999558-144999558		CTexonicDe novosynonymous SNVNM_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-4Fu2022 E
PLEC     SP0010086chr8:
144993978-144993978		CGexonicDe novosynonymous SNVNM_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
PLEC     SP0000267chr8:
144999449-144999449		GAexonicDe novononsynonymous SNVNM_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		9.6816.947E-5Fu2022 E
PLEC     SP0095651chr8:
144998423-144998423		CTexonicDe novononsynonymous SNVNM_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		14.126.595E-5Fu2022 E
PLEC     09C98909chr8:
144995364-144995364		GAexonicDe novosynonymous SNVNM_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-4DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
PLEC     SP0040294chr8:
145009214-145009214		GAexonicDe novononsynonymous SNVNM_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		12.858.4E-6Fu2022 E
PLEC     SP0010018chr8:
145009202-145009202		CTexonicDe novononsynonymous SNVNM_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
PLEC     SP0122966chr8:
145018170-145018170		GAintronicDe novo--Fu2022 E
PLEC     SP0006750chr8:
145012884-145012884		CTintronicDe novo--Fu2022 E
PLEC     SP0052969chr8:
145004585-145004585		GAexonicDe novosynonymous SNVNM_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
PLEC     SP0127375chr8:
145004455-145004455		GAexonicDe novosynonymous SNVNM_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
PLEC     SP0049936chr8:
145004524-145004524		CGintronicDe novo--Fu2022 E
PLEC     200675762@1082034441chr8:
144998708-144998708		GAexonicDe novononsynonymous SNVNM_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		12.711.0E-4Satterstrom2020 E
PLEC     SP0141690chr8:
145004248-145004248		CTintronicDe novo--Fu2022 E
PLEC     AU054304chr8:
145045043-145045043		GAintronicDe novo--Yuen2017 G
PLEC     200675762_1082034441chr8:
144998708-144998708		GAexonicDe novononsynonymous SNVNM_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		12.711.0E-4Fu2022 E
PLEC     EGAN00001101317chr8:
144990506-144990506		TGexonicDe novononsynonymous SNVNM_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_Fam0107chr8:
144995036-144995036		CGexonicDe novononsynonymous SNVNM_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     08C73296chr8:
145006311-145006311		CTexonicDe novononsynonymous SNVNM_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		10.822.812E-5Fu2022 E
Satterstrom2020 E
PLEC     013-07-107614chr8:
144993782-144993782		GAexonicDe novononsynonymous SNVNM_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		4.0992.0E-4Fu2022 E
Satterstrom2020 E
PLEC     11815-1chr8:
144995985-144995985		CTexonicDe novosynonymous SNVNM_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_11524-1chr8:
144999757-144999757		CGexonicDe novononsynonymous SNVNM_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.p1chr8:
144996005-144996005		CTexonicDe novononsynonymous SNVNM_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_2013chr8:
145005771-145005771		CTexonicDe novosynonymous SNVNM_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

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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 notesView
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