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Results for "EPPK1"

Variant Events: 29

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
EPPK1     iHART2463chr8:
144946515-144946515		GAexonicMaternalstopgainNM_031308c.C907Tp.Q303X18.34-Ruzzo2019 G
EPPK1     PN400249chr8:
144940619-144940619		GAexonicUnknownnonsynonymous SNVNM_031308c.C6803Tp.A2268V34.07.719E-5Leblond2019 E
EPPK1     PN400487chr8:
144946188-144946188		GAexonicUnknownnonsynonymous SNVNM_031308c.C1234Tp.R412W18.890.013Leblond2019 E
EPPK1     1-0138-003chr8:
144941553-144941553		CTexonicDe novononsynonymous SNVNM_031308c.G5869Ap.V1957M15.57-Yuen2017 G
EPPK1     iHART2908chr8:
144941377-144941377		AACexonicMaternalframeshift insertionNM_031308c.6044dupGp.G2015fs-6.743E-5Ruzzo2019 G
EPPK1     PN400343chr8:
144940619-144940619		GAexonicUnknownnonsynonymous SNVNM_031308c.C6803Tp.A2268V34.07.719E-5Leblond2019 E
EPPK1     12021.p1chr8:
144940414-144940414		GAexonicMosaicsynonymous SNVNM_031308c.C7008Tp.I2336I--Krupp2017 E
EPPK1     13920.p1chr8:
144940690-144940690		GAexonicMosaicsynonymous SNVNM_031308c.C6732Tp.S2244S-4.0E-4Dou2017 E
EPPK1     Lim2017:11433chr8:
144940516-144940516		CGexonicDe novosynonymous SNVNM_031308c.G6906Cp.S2302S--Lim2017 E
EPPK1     SSC09844chr8:
144940437-144940437		GAexonicDe novononsynonymous SNVNM_031308c.C6985Tp.L2329F29.3-Lim2017 E
EPPK1     13882.p1chr8:
144940597-144940597		GAexonicDe novosynonymous SNVNM_031308c.C6825Tp.P2275P-1.0E-4Lim2017 E
EPPK1     13820.p1chr8:
144940533-144940533		GAexonicDe novostopgainNM_031308c.C6889Tp.Q2297X48.0-Lim2017 E
EPPK1     SSC02031chr8:
144945296-144945296		CTexonicMosaicnonsynonymous SNVNM_031308c.G2126Ap.G709D0.0642.0E-4Lim2017 E
EPPK1     NP124chr8:
144940628-144940628		GAexonicDe novononsynonymous SNVNM_031308c.C6794Tp.A2265V25.27.68E-5Lim2017 E
EPPK1     SP0031996chr8:
144942316-144942316		GAexonicDe novosynonymous SNVNM_031308c.C5106Tp.D1702D-7.527E-5Feliciano2019 E
Fu2022 E
EPPK1     PN400528chr8:
144940808-144940809		CTCexonicUnknownframeshift deletionNM_031308c.6613delAp.S2205fs-9.024E-5Leblond2019 E
EPPK1     PN400528 Complex Event; expand row to view variants  Unknownframeshift insertion, frameshift deletionNM_031308
NM_031308		c.6636_6637insAT
c.6638_6639del		p.D2213fs
p.D2213fs		-0.0599Leblond2019 E
Leblond2019 E
EPPK1     1-0404-003chr8:
144970994-144970994		CAintergenicDe novo--Yuen2017 G
EPPK1     PN400556chr8:
144940825-144940825		GGAexonicUnknownframeshift insertionNM_031308c.6596_6597insTp.D2199fs--Leblond2019 E
EPPK1     PN400556chr8:
144940808-144940809		CTCexonicUnknownframeshift deletionNM_031308c.6613delAp.S2205fs-9.024E-5Leblond2019 E
EPPK1     PN400556 Complex Event; expand row to view variants  Unknownframeshift insertion, frameshift deletionNM_031308
NM_031308		c.6636_6637insAT
c.6638_6639del		p.D2213fs
p.D2213fs		-0.0599Leblond2019 E
Leblond2019 E
EPPK1     12026.p1chr8:
144940744-144940744		GAexonicMosaicsynonymous SNVNM_031308c.C6678Tp.I2226I-8.352E-5Dou2017 E
EPPK1     Viggiano2022:22.3chr8:
144941376-144941376		CCCexonicMaternalframeshift insertionNM_031308c.6046dupGp.V2016fs--Viggiano2022 GT
EPPK1     Cukier2014:7745chr8:
144941198-144941198		TGexonicUnknownnonsynonymous SNVNM_031308c.A6224Cp.Q2075P14.610.012Cukier2014 E
EPPK1     Viggiano2022:22.4chr8:
144941376-144941376		CCCexonicMaternalframeshift insertionNM_031308c.6046dupGp.V2016fs--Viggiano2022 GT
EPPK1     12007.p1chr8:
144940615-144940615		GAexonicDe novosynonymous SNVNM_031308c.C6807Tp.T2269T-0.0015Iossifov2014 E
Kosmicki2017 E
EPPK1     2-1373-003chr8:
144940658-144940658		CTexonicDe novononsynonymous SNVNM_031308c.G6764Ap.R2255Q22.60.003Yuen2017 G
EPPK1     SP0076540chr8:
144947040-144947040		CTexonicDe novononsynonymous SNVNM_031308c.G382Ap.G128S10.42.801E-5Fu2022 E
EPPK1     1-0936-003chr8:
144952327-144952327		GAintronicDe 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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