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Results for "ABCC5"

Variant Events: 25

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
ABCC5     11793_p1chr3:
183681319-183681319
GAexonicDe novononsynonymous SNVNM_005688c.C2089Tp.R697W22.4-Fu2022 E
ABCC5     AU3997301chr3:
183646415-183646415
CTintronicDe novo--Trost2022 G
Yuen2017 G
ABCC5     08C72918chr3:
183660223-183660223
AGintronicDe novo--Fu2022 E
ABCC5     68520chr3:
183667631-183667631
GAexonicDe novononsynonymous SNVNM_005688c.C3137Tp.T1046M20.88.281E-5Fu2022 E
Trost2022 G
ABCC5     11159.p1chr3:
183667631-183667631
GAexonicDe novononsynonymous SNVNM_005688c.C3137Tp.T1046M20.88.281E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
ABCC5     11793.p1chr3:
183681319-183681319
GAexonicDe novononsynonymous SNVNM_005688c.C2089Tp.R697W22.4-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
ABCC5     SP0073323chr3:
183706387-183706387
TCexonicDe novononsynonymous SNVNM_001023587
NM_005688
c.A416G
c.A416G
p.H139R
p.H139R
15.558.269E-6Fu2022 E
Trost2022 G
Zhou2022 GE
ABCC5     SP0054108chr3:
183679366-183679366
ATexonicDe novononsynonymous SNVNM_005688c.T2312Ap.M771K27.7-Fu2022 E
Trost2022 G
Zhou2022 GE
ABCC5     AU149Achr3:
183682987-183682987
TGexonicDe novononsynonymous SNVNM_005688c.A2017Cp.S673R16.71-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ABCC5     1-0652-003chr3:
183641890-183641890
GAintronicDe novo--Trost2022 G
Yuen2017 G
ABCC5     5-0077-004chr3:
183656674-183656674
TCintronicDe novo--Yuen2017 G
ABCC5     SP0066933chr3:
183700635-183700636
CGCexonicframeshift deletionNM_005688c.751delCp.R251fs--Zhou2022 GE
ABCC5     SP0105069chr3:
183689844-183689844
ACintronicDe novo--Trost2022 G
ABCC5     SP0174870chr3:
183699700-183699700
ACintronicDe novo--Trost2022 G
ABCC5     DEASD_0078_001chr3:
183669614-183669614
ATintronicDe novo-5.844E-5Kosmicki2017 E
ABCC5     AU4122301chr3:
183675562-183675562
ACintronicDe novo--Trost2022 G
ABCC5     TAS_F5044Ychr3:
183646593-183646593
TCexonicDe novononsynonymous SNVNM_005688c.A3875Gp.N1292S10.68-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ABCC5     7-0329-003chr3:
183675571-183675571
CTintronicDe novo--Trost2022 G
ABCC5     MSSNG00029-003chr3:
183656901-183656901
GAintronicDe novo--Trost2022 G
ABCC5     G01_GEA519HIchr3:
183707306-183707306
TGintronicDe novo--Fu2022 E
ABCC5     4-0088-003chr3:
183716840-183716840
TCintronicDe novo--Trost2022 G
ABCC5     AUTPGX_1015chr3:
183733111-183733115
ATACTAintronicDe novo--Trost2022 G
ABCC5     MSSNG00367-003chr3:
183707586-183707586
GAintronicDe novo--Trost2022 G
ABCC5     2-0045-003chr3:
183664132-183664132
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ABCC5     MSSNG00414-003chr3:
183712376-183712377
CTCintronicDe novo--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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