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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     AU054304chr8:
145045043-145045043
GAintronicDe novo--Yuen2017 G
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     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     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-5Satterstrom2020 E
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-5Satterstrom2020 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-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-4Satterstrom2020 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     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     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
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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