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Results for "CDAN1"

Variant Events: 34

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
CDAN1     PN400369chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     PN400534chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     PN400179chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     PN400548chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     mAGRE2412chr15:
43019838-43019843		TGGGAGTexonicMaternalframeshift deletionNM_138477c.3072_3076delp.P1024fs--Cirnigliaro2023 G
CDAN1     mAGRE2410chr15:
43019838-43019843		TGGGAGTexonicMaternalframeshift deletionNM_138477c.3072_3076delp.P1024fs--Cirnigliaro2023 G
CDAN1     PN400194chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     mAGRE2409chr15:
43019838-43019843		TGGGAGTexonicMaternalframeshift deletionNM_138477c.3072_3076delp.P1024fs--Cirnigliaro2023 G
CDAN1     PN400412chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     PN400523chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     12622_p1chr15:
43020870-43020871		CTCexonicDe novoframeshift deletionNM_138477c.2783delAp.Q928fs--Fu2022 E
CDAN1     7-0035-003chr15:
43015936-43015936		GAUTR3De novo--Yuen2017 G
CDAN1     PN400313chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     PN400441chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     SP0162356chr15:
43021977-43021977		GAintronicDe novo-6.845E-5Trost2022 G
CDAN1     PN400128chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     SP0062053chr15:
43027339-43027339		ACexonicDe novononsynonymous SNVNM_138477c.T1095Gp.D365E26.1-Fu2022 E
CDAN1     12622.p1chr15:
43020870-43020871		CTCexonicDe novoframeshift deletionNM_138477c.2783delAp.Q928fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CDAN1     SP0002316chr15:
43021341-43021341		GAintronicDe novo--Fu2022 E
Trost2022 G
CDAN1     SP0110871chr15:
43027339-43027339		ACexonicDe novononsynonymous SNVNM_138477c.T1095Gp.D365E26.1-Fu2022 E
CDAN1     PN400273chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     iHART2410chr15:
43019838-43019843		TGGGAGTexonicMaternalframeshift deletionNM_138477c.3072_3076delp.P1024fs--Ruzzo2019 G
CDAN1     iHART2409chr15:
43019838-43019843		TGGGAGTexonicMaternalframeshift deletionNM_138477c.3072_3076delp.P1024fs--Ruzzo2019 G
CDAN1     SP0007984chr15:
43021757-43021757		GAintronicDe novo-2.0E-4Fu2022 E
Trost2022 G
CDAN1     PN400489chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     iHART2412chr15:
43019838-43019843		TGGGAGTexonicMaternalframeshift deletionNM_138477c.3072_3076delp.P1024fs--Ruzzo2019 G
CDAN1     1-0455-004chr15:
43025459-43025459		CTintronicDe novo--Trost2022 G
Yuen2017 G
CDAN1     Cukier2014:7658chr15:
43022806-43022806		GAexonicUnknownnonsynonymous SNVNM_138477c.C2164Tp.R722C18.760.0012Cukier2014 E
CDAN1     1-0354-006chr15:
43029784-43029787		GTTCGupstreamDe novo--Trost2022 G
Yuen2017 G
CDAN1     PN400306chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     PN400121chr15:
43020189-43020189		CTexonicUnknownnonsynonymous SNVNM_138477c.G2911Ap.E971K35.08.246E-5Leblond2019 E
CDAN1     SP0036774chr15:
43016618-43016618		ACUTR3De novo--Fu2022 E
Trost2022 G
CDAN1     PN400277chr15:
43022907-43022907		CTexonicUnknownnonsynonymous SNVNM_138477c.G2063Ap.R688Q20.53.57E-5Leblond2019 E
CDAN1     AGG0016chr15:
43024513-43024513		TCintronicDe novo--Satterstrom2020 E
Trost2022 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
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