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Results for "SEC24D"

Variant Events: 22

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
SEC24D     MSSNG00031-003chr4:
119719025-119719025
TGintronicDe novo--Trost2022 G
SEC24D     13539.p1chr4:
119736624-119736624
CTexonicDe novononsynonymous SNVNM_014822c.G655Ap.G219R19.13-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Turner2016 G
Zhou2022 GE
SEC24D     5-5027-003chr4:
119696060-119696060
CTintronicDe novo--Trost2022 G
SEC24D     MSSNG00386-003chr4:
119697665-119697670
TAACTATintronicDe novo--Trost2022 G
SEC24D     SP0033910chr4:
119659496-119659496
GAexonicnonsynonymous SNVNM_014822c.C2416Tp.R806W22.39.899E-5Zhou2022 GE
SEC24D     3-0090-001chr4:
119687418-119687420
CCTCintronicDe novo--Trost2022 G
SEC24D     4-0062-003chr4:
119691160-119691162
ATGCTCintronicDe novo--Trost2022 G
SEC24D     1-0244-003chr4:
119713079-119713079
GAintronicDe novo--Yuen2016 G
Yuen2017 G
SEC24D     SP0071068chr4:
119727105-119727105
TCexonicnonsynonymous SNVNM_014822c.A806Gp.Q269R20.9-Zhou2022 GE
SEC24D     12150.p1chr4:
119718873-119718873
CTexonicnonsynonymous SNVNM_014822c.G1006Ap.V336I12.82-Zhou2022 GE
SEC24D     7-0396-003chr4:
119654613-119654613
AGintronicDe novo--Trost2022 G
SEC24D     mAGRE1662chr4:
119718951-119718951
GAexonicPaternalstopgainNM_014822c.C928Tp.R310X38.0-Cirnigliaro2023 G
SEC24D     Cukier2014:7713chr4:
119673889-119673889
GAexonicUnknownnonsynonymous SNVNM_014822c.C1576Tp.L526F29.70.0091Cukier2014 E
SEC24D     mAGRE1661chr4:
119718951-119718951
GAexonicPaternalstopgainNM_014822c.C928Tp.R310X38.0-Cirnigliaro2023 G
SEC24D     13358.p1chr4:
119668258-119668258
AGintronicDe novo--Werling2018 G
SEC24D     12638.p1chr4:
119738546-119738546
GTexonicDe novosynonymous SNVNM_014822c.C270Ap.V90V--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
SEC24D     SSC06387chr4:
119738546-119738546
GTexonicDe novosynonymous SNVNM_014822c.C270Ap.V90V--Fu2022 E
Lim2017 E
Trost2022 G
SEC24D     iHART1661chr4:
119718951-119718951
GAexonicPaternalstopgainNM_014822c.C928Tp.R310X38.0-Ruzzo2019 G
SEC24D     2-1730-003chr4:
119726838-119726838
AGintronicDe novo--Trost2022 G
Yuen2017 G
SEC24D     iHART1662chr4:
119718951-119718951
GAexonicPaternalstopgainNM_014822c.C928Tp.R310X38.0-Ruzzo2019 G
SEC24D     2-1183-003chr4:
119667650-119667650
ATintronicDe novo--Trost2022 G
Yuen2017 G
SEC24D     SSC08058chr4:
119736624-119736624
CTexonicDe novononsynonymous SNVNM_014822c.G655Ap.G219R19.13-Lim2017 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
Curation notesView
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