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Results for "ABCA7"

Variant Events: 16

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
ABCA7     1-0269-003chr19:
1040500-1040506
TGTAAAGTintronicDe novo--Yuen2017 G
ABCA7     1-0435-003chr19:
1042882-1042882
CTintronicDe novo--Yuen2017 G
ABCA7     14399.p1chr19:
1063613-1063613
GAexonicDe novononsynonymous SNVNM_019112c.G5783Ap.G1928E23.5-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ABCA7     Shi2013:2chr19:
1064171-1064171
GTexonicInheritednonsynonymous SNVNM_019112c.G5963Tp.C1988F17.015.0E-4Shi2013 G
ABCA7     Lim2017:70514chr19:
1063613-1063613
GAexonicDe novononsynonymous SNVNM_019112c.G5783Ap.G1928E23.5-Lim2017 E
ABCA7     PN400100chr19:
1047507-1047514
AGGAGCAGAexonicUnknownframeshift deletionNM_019112c.2124_2130delp.E708fs-0.0024Leblond2019 E
ABCA7     08C74198chr19:
1063719-1063719
GAintronicDe novo--Satterstrom2020 E
ABCA7     Shi2013:1chr19:
1064171-1064171
GTexonicInheritednonsynonymous SNVNM_019112c.G5963Tp.C1988F17.015.0E-4Shi2013 G
ABCA7     iHART2515chr19:
1046815-1046815
TGexonicDe novononsynonymous SNVNM_019112c.T1637Gp.L546R20.2-Ruzzo2019 G
ABCA7     iHART2517chr19:
1046815-1046815
TGexonicDe novononsynonymous SNVNM_019112c.T1637Gp.L546R20.2-Ruzzo2019 G
ABCA7     Viggiano2022:105.3chr19:
1045173-1045173
GCexonicPaternalnonsynonymous SNVNM_019112c.G1388Cp.R463P28.82.0E-4Viggiano2022 GT
ABCA7     PN400284chr19:
1055907-1055908
CTCexonicUnknownframeshift deletionNM_019112c.4208delTp.L1403fs-0.0011Leblond2019 E
ABCA7     PN400306chr19:
1055907-1055908
CTCexonicUnknownframeshift deletionNM_019112c.4208delTp.L1403fs-0.0011Leblond2019 E
ABCA7     EGAN00001101164chr19:
1041885-1041885
TGexonicDe novosynonymous SNVNM_019112c.T216Gp.G72G--Satterstrom2020 E
ABCA7     iHART2335chr19:
1045231-1045231
GCsplicingPaternalsplicing17.738.896E-6Ruzzo2019 G
ABCA7     iHART2334chr19:
1045231-1045231
GCsplicingPaternalsplicing17.738.896E-6Ruzzo2019 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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