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Results for "ABCA13"

Variant Events: 40

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
ABCA13     5-0128-003chr7:
48638061-48638061
GAintronicDe novo--Yuen2017 G
ABCA13     AU2787302chr7:
48501848-48501848
ATintronicDe novo--Yuen2017 G
ABCA13     AU3787302chr7:
48627740-48627740
CTintronicDe novo--Yuen2017 G
ABCA13     AU4033303chr7:
48818068-48818068
GCintergenicDe novo--Yuen2017 G
ABCA13     1-0564-003chr7:
48685410-48685410
ATUTR3De novo--Yuen2017 G
ABCA13     AU3648301chr7:
48652870-48652870
CTintronicDe novo--Yuen2017 G
ABCA13     12764.p1chr7:
48596343-48596343
AATintronicDe novo--Wilfert2021 G
ABCA13     1-0820-003chr7:
48365909-48365909
TCintronicDe novo--Yuen2017 G
ABCA13     2-1369-003chr7:
48367631-48367631
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ABCA13     7-0100-004chr7:
48333250-48333250
TGintronicDe novo--Yuen2017 G
ABCA13     Cukier2014:7936chr7:
48273776-48273776
CTintronicUnknown-4.97E-5Cukier2014 E
ABCA13     3-0428-000chr7:
48426308-48426308
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ABCA13     2-1620-003chr7:
48735907-48735907
TCintergenicDe novo--Yuen2017 G
ABCA13     14215.p1chr7:
48407362-48407362
CTintronicDe novo-7.927E-5Satterstrom2020 E
ABCA13     AU038703chr7:
48841089-48841089
CTintergenicDe novo--Yuen2017 G
ABCA13     2-0305-004chr7:
48390223-48390223
CGintronicDe novo--Yuen2017 G
ABCA13     SSC07524chr7:
48443438-48443438
GAexonicDe novononsynonymous SNVNM_152701c.G12032Ap.R4011Q29.16.059E-5Lim2017 E
ABCA13     14046.p1chr7:
48467501-48467501
GTintronicDe novo--Satterstrom2020 E
ABCA13     AU4429301chr7:
48699537-48699537
GAintergenicDe novo--Yuen2017 G
ABCA13     iHART2973chr7:
48259087-48259087
CTexonicPaternalstopgainNM_152701c.C424Tp.R142X12.757.457E-5Ruzzo2019 G
ABCA13     13496.p1chr7:
48443438-48443438
GAexonicDe novononsynonymous SNVNM_152701c.G12032Ap.R4011Q29.16.059E-5Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ABCA13     iHART2972chr7:
48259087-48259087
CTexonicPaternalstopgainNM_152701c.C424Tp.R142X12.757.457E-5Ruzzo2019 G
ABCA13     10C117939chr7:
48287839-48287839
CTexonicDe novononsynonymous SNVNM_152701c.C1663Tp.R555C12.64-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
ABCA13     1-0458-004chr7:
48691135-48691135
TGintergenicDe novo--Yuen2017 G
ABCA13     iHART2970chr7:
48259087-48259087
CTexonicPaternalstopgainNM_152701c.C424Tp.R142X12.757.457E-5Ruzzo2019 G
ABCA13     NDAR_INVXP194LCA_wes1chr7:
48318773-48318773
AGexonicDe novononsynonymous SNVNM_152701c.A7982Gp.N2661S8.5791.216E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
ABCA13     12228.p1chr7:
48287915-48287915
AGexonicDe novononsynonymous SNVNM_152701c.A1739Gp.E580G12.154.156E-5Ji2016 E
ABCA13     08C77477chr7:
48335416-48335416
CTexonicDe novosynonymous SNVNM_152701c.C9075Tp.C3025C--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ABCA13     10C103964chr7:
48390312-48390312
AGexonicDe novononsynonymous SNVNM_152701c.A10277Gp.N3426S18.034.969E-5DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
ABCA13     1-0323-004chr7:
48342572-48342572
TCintronicDe novo--Yuen2017 G
ABCA13     AU1355301chr7:
48891541-48891541
GTintergenicDe novo--Yuen2017 G
ABCA13     14328.p1chr7:
48820902-48820902
GAintergenicDe novo--Werling2018 G
ABCA13     iHART2211chr7:
48273746-48273746
GTexonicMaternalstopgainNM_152701c.G895Tp.E299X17.38-Ruzzo2019 G
ABCA13     1-0324-003chr7:
48733243-48733243
TCintergenicDe novo--Yuen2017 G
ABCA13     iHART2971chr7:
48259087-48259087
CTexonicPaternalstopgainNM_152701c.C424Tp.R142X12.757.457E-5Ruzzo2019 G
ABCA13     iHART2998chr7:
48314465-48314466
GTGexonicMaternalframeshift deletionNM_152701c.5203delTp.F1735fs--Ruzzo2019 G
ABCA13     12653.p1chr7:
48467428-48467428
GCexonicDe novononsynonymous SNVNM_152701c.G12525Cp.E4175D10.97-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
ABCA13     14637.p1chr7:
48804710-48804710
GAintergenicDe novo--Turner2016 G
ABCA13     2-1438-003chr7:
48626631-48626631
GTintronicDe novo--Yuen2016 G
Yuen2017 G
ABCA13     AU4069302chr7:
48760486-48760486
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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