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Results for "PPP2R5D"

Variant Events: 18

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
PPP2R5D     M15084chr6:
42976160-42976160
CTexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976
c.C655T
c.C520T
c.C973T
c.C877T
p.R219C
p.R174C
p.R325C
p.R293C
17.35-Stessman2017 T
Wang2020 T
Wang2020 T
PPP2R5D     SD0005.p1chr6:
42974956-42974956
CTexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976
c.C227T
c.C92T
c.C545T
c.C449T
p.T76M
p.T31M
p.T182M
p.T150M
28.42.471E-5Wang2020 T
Wang2020 T
PPP2R5D     SD0118.p1chr6:
42974366-42974366
CTexonicUnknownnonsynonymous SNVNM_006245c.C271Tp.R91C32.04.131E-5Wang2020 T
Wang2020 T
PPP2R5D     AGG0011chr6:
42975003-42975003
GAexonicDe novononsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976
c.G274A
c.G139A
c.G592A
c.G496A
p.E92K
p.E47K
p.E198K
p.E166K
36.0-Satterstrom2020 E
PPP2R5D     14550.p1chr6:
42975179-42975180
CTCexonicDe novoframeshift deletionNM_180977
NM_001270476
NM_006245
NM_180976
c.344delT
c.209delT
c.662delT
c.566delT
p.L115fs
p.L70fs
p.L221fs
p.L189fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
PPP2R5D     MAC581chr6:
42975003-42975003
GAexonicDe novononsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976
c.G274A
c.G139A
c.G592A
c.G496A
p.E92K
p.E47K
p.E198K
p.E166K
36.0-Satterstrom2020 E
PPP2R5D     11097.p1chr6:
42978887-42978887
AGexonicDe novononsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976
c.A1354G
c.A1219G
c.A1672G
c.A1576G
p.M452V
p.M407V
p.M558V
p.M526V
8.264-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
PPP2R5D     Mahjani2021:130chr6:
42975009-42975009
GAexonicnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976
c.G280A
c.G145A
c.G598A
c.G502A
p.E94K
p.E49K
p.E200K
p.E168K
36.0-Mahjani2021 E
PPP2R5D     SSC02462chr6:
42978887-42978887
AGexonicDe novononsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976
c.A1354G
c.A1219G
c.A1672G
c.A1576G
p.M452V
p.M407V
p.M558V
p.M526V
8.264-Lim2017 E
PPP2R5D     AU4463303chr6:
42978706-42978710
AAGAGAAGexonicDe novoframeshift deletionNM_180977
NM_001270476
NM_006245
NM_180976
c.1327_1328del
c.1192_1193del
c.1645_1646del
c.1549_1550del
p.R443fs
p.R398fs
p.R549fs
p.R517fs
--Wang2020 T
Yuen2017 G
PPP2R5D     JASD_Fam0076chr6:
42975003-42975003
GAexonicDe novononsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976
c.G274A
c.G139A
c.G592A
c.G496A
p.E92K
p.E47K
p.E198K
p.E166K
36.0-Takata2018 E
PPP2R5D     M18396chr6:
42975224-42975224
GAexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976
c.G388A
c.G253A
c.G706A
c.G610A
p.D130N
p.D85N
p.D236N
p.D204N
27.4-Stessman2017 T
Wang2020 T
Wang2020 T
PPP2R5D     230505chr6:
42978470-42978470
CTexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976
c.C1232T
c.C1097T
c.C1550T
c.C1454T
p.P411L
p.P366L
p.P517L
p.P485L
27.5-Wang2020 T
Wang2020 T
PPP2R5D     72chr6:
42974252-42974252
CTexonicDe novononsynonymous SNVNM_006245
NM_180976
c.C157T
c.C157T
p.P53S
p.P53S
9.939-O’Roak2014 T
PPP2R5D     SF0082164.p1chr6:
42974349-42974349
GAexonicDe novononsynonymous SNVNM_006245c.G254Ap.R85Q16.79-Wang2020 T
PPP2R5D     GX0146.p1chr6:
42975234-42975234
TCexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976
c.T398C
c.T263C
c.T716C
c.T620C
p.F133S
p.F88S
p.F239S
p.F207S
28.9-Wang2020 T
Wang2020 T
PPP2R5D     7031chr6:
42975173-42975173
CTexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976
c.C337T
c.C202T
c.C655T
c.C559T
p.R113C
p.R68C
p.R219C
p.R187C
23.2-Wang2020 T
Wang2020 T
PPP2R5D     AU038204chr6:
42954077-42954077
CTintronicDe novo--Yuen2017 G
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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