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Results for "EP400"

Variant Events: 27

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
EP400     SP0029297chr12:
132529964-132529964
GCexonicDe novononsynonymous SNVNM_015409c.G6885Cp.E2295D10.91-Fu2022 E
EP400     SP0006750chr12:
132446144-132446144
TGexonicDe novononsynonymous SNVNM_015409c.T980Gp.V327G8.074-Fu2022 E
EP400     146-09-111131chr12:
132445545-132445545
GAexonicDe novosynonymous SNVNM_015409c.G381Ap.L127L--Fu2022 E
EP400     SP0103857chr12:
132529958-132529958
CTexonicDe novosynonymous SNVNM_015409c.C6879Tp.R2293R--Fu2022 E
EP400     SSC07901chr12:
132514317-132514317
ACexonicDe novononsynonymous SNVNM_015409c.A5453Cp.Y1818S8.482-Fu2022 E
EP400     SP0086715chr12:
132498073-132498073
AGexonicDe novononsynonymous SNVNM_015409c.A3650Gp.N1217S14.86-Fu2022 E
EP400     SP0050119chr12:
132445252-132445252
GGGGCCCCCCexonicDe novoframeshift insertionNM_015409c.88_89insGGCCCCCCp.A30fs--Fu2022 E
EP400     1-0745-003chr12:
132446866-132446866
CTintronicDe novo--Yuen2017 G
EP400     ASC_CA_161_Achr12:
132445833-132445833
CTexonicDe novosynonymous SNVNM_015409c.C669Tp.P223P--Fu2022 E
EP400     SP0150012chr12:
132475128-132475128
CTintronicDe novo--Fu2022 E
EP400     1-0806-003chr12:
132520950-132520957
GAACAACAGAACAintronicDe novo--Yuen2017 G
EP400     1-0976-003chr12:
132445592-132445592
CTexonicDe novononsynonymous SNVNM_015409c.C428Tp.P143L8.334-Yuen2017 G
EP400     AU075308chr12:
132510280-132510280
GAexonicUnknownnonsynonymous SNVNM_015409c.G4945Ap.A1649T12.90.003Chahrour2012 E
EP400     12548.p1chr12:
132516666-132516666
GAexonicDe novononsynonymous SNVNM_015409c.G5923Ap.G1975R14.27-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
EP400     DEASD_0364_001chr12:
132466931-132466931
AATCCCexonicDe novoframeshift insertionNM_015409c.1837_1838insTCCCp.I613fs--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
EP400     08C79227chr12:
132498194-132498194
CTexonicDe novosynonymous SNVNM_015409c.C3771Tp.V1257V--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
EP400     AU075308chr12:
132522531-132522531
CTexonicUnknownnonsynonymous SNVNM_015409c.C6097Tp.P2033S11.740.0011Chahrour2012 E
EP400     AU1940304chr12:
132446281-132446281
TCexonicDe novononsynonymous SNVNM_015409c.T1117Cp.Y373H1.1859.0E-4Yuen2017 G
EP400     2-1140-003chr12:
132539992-132539992
GGAAintronicDe novo--Yuen2017 G
EP400     11226.p1chr12:
132516561-132516561
CTexonicMosaicnonsynonymous SNVNM_015409c.C5818Tp.R1940C12.898.239E-6Krupp2017 E
EP400     2-1508-004chr12:
132561576-132561576
ACintronicDe novo--Yuen2017 G
EP400     13907.p1chr12:
132514357-132514357
GAexonicDe novo, Mosaicsynonymous SNVNM_015409c.G5493Ap.E1831E-1.666E-5Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
EP400     14278.p1chr12:
132530297-132530298
CTCexonicDe novoframeshift deletionNM_015409c.7053delTp.P2351fs--Ji2016 E
EP400     11241.p1chr12:
132562223-132562223
GTUTR3De novo--Krumm2015 E
EP400     AU1987304chr12:
132483249-132483249
CGintronicDe novo--Yuen2017 G
EP400     1-0285-003chr12:
132438357-132438357
TCintronicDe novo--Yuen2017 G
EP400     AU1894304chr12:
132498565-132498565
GTintronicDe 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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