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Results for "PPP2R5D"

Variant Events: 26

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     Hu2022:77chr6:
42974971-42974971		CTexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976		c.C242T
c.C107T
c.C560T
c.C464T		p.S81L
p.S36L
p.S187L
p.S155L		16.17-Hu2022 T
PPP2R5D     SF0082164.p1chr6:
42974349-42974349		GAexonicnonsynonymous SNVNM_006245c.G254Ap.R85Q16.79-Wang2020 T
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-Fu2022 E
Lim2017 E
PPP2R5D     AU4463303chr6:
42978706-42978710		AAGAGAAGexonicUnknown, De 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     36854chr6:
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		--Fu2022 E
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     ACGC_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-Wang2020 T
PPP2R5D     Naples_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
PPP2R5D     ACGC_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-Wang2020 T
PPP2R5D     ACGC_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
PPP2R5D     Leuven_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
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
PPP2R5D     ACGC_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
PPP2R5D     ACGC_SD0118.p1chr6:
42974366-42974366		CTexonicUnknownnonsynonymous SNVNM_006245c.C271Tp.R91C32.04.131E-5Wang2020 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-Fu2022 E
Satterstrom2020 E
PPP2R5D     Krgovic2022:038924chr6:
42975704-42975704		GAexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976		c.G440A
c.G305A
c.G758A
c.G662A		p.R147Q
p.R102Q
p.R253Q
p.R221Q		35.0-Krgovic2022 E
PPP2R5D     SSC12695chr6:
42975179-42975180		CTCexonicframeshift deletionNM_180977
NM_001270476
NM_006245
NM_180976		c.344delT
c.209delT
c.662delT
c.566delT		p.L115fs
p.L70fs
p.L221fs
p.L189fs		--Antaki2022 GE
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-Fu2022 E
Satterstrom2020 E
PPP2R5D     Krgovic2022:022629chr6:
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-Krgovic2022 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     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
PPP2R5D     72chr6:
42974252-42974252		CTexonicDe novononsynonymous SNVNM_006245
NM_180976		c.C157T
c.C157T		p.P53S
p.P53S		9.939-O’Roak2014 T
PPP2R5D     SP0082164chr6:
42974349-42974349		GAexonicDe novononsynonymous SNVNM_006245c.G254Ap.R85Q16.79-Fu2022 E
PPP2R5D     AU038204chr6:
42954077-42954077		CTintronicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
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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.
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