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Results for "APBB1IP"

Variant Events: 23

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
APBB1IP     AU4029302chr10:
26746150-26746150
CTintronicDe novo--Trost2022 G
Yuen2017 G
APBB1IP     iHART3156chr10:
26785232-26785232
GCsplicingMaternalsplicing21.3-Ruzzo2019 G
APBB1IP     iHART3155chr10:
26785232-26785232
GCsplicingMaternalsplicing21.3-Ruzzo2019 G
APBB1IP     2-0109-003chr10:
26860268-26860268
CTintergenicDe novo--Yuen2017 G
APBB1IP     AU3716302chr10:
26785232-26785232
GCsplicingMaternalsplicing21.3-Cirnigliaro2023 G
APBB1IP     AU3716301chr10:
26785232-26785232
GCsplicingMaternalsplicing21.3-Cirnigliaro2023 G
APBB1IP     AU220Achr10:
26855863-26855863
AGintronicDe novo--Kosmicki2017 E
APBB1IP     12598.p1chr10:
26842859-26842859
ATintronicDe novo--Wilfert2021 G
APBB1IP     1-0319-004chr10:
26780065-26780065
GAintronicDe novo--Trost2022 G
APBB1IP     3-0107-001chr10:
26795872-26795872
CTintronicDe novo--Trost2022 G
APBB1IP     3-0842-000chr10:
26740968-26740968
AGintronicDe novo--Trost2022 G
APBB1IP     1-1195-003chr10:
26753271-26753271
CGintronicDe novo--Trost2022 G
APBB1IP     ASC_CA_164_Achr10:
26800831-26800831
AGexonicDe novosynonymous SNVNM_019043c.A687Gp.Q229Q--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
APBB1IP     SP0086991chr10:
26856351-26856351
CTexonicDe novosynonymous SNVNM_019043c.C1935Tp.G645G5.397-Fu2022 E
Trost2022 G
Zhou2022 GE
APBB1IP     SP0025497chr10:
26855932-26855932
CTexonicDe novononsynonymous SNVNM_019043c.C1516Tp.P506S10.78-Trost2022 G
APBB1IP     REACH000762chr10:
26857431-26857431
CTdownstreamDe novo--Trost2022 G
APBB1IP     SP0025576chr10:
26855932-26855932
CTexonicDe novononsynonymous SNVNM_019043c.C1516Tp.P506S10.78-Feliciano2019 E
APBB1IP     CC1342_201chr10:
26822402-26822402
GAexonicDe novononsynonymous SNVNM_019043c.G848Ap.S283N9.6558.636E-6Fu2022 E
APBB1IP     P6Q4Z_01chr10:
26805506-26805506
CAintronicDe novo--Trost2022 G
APBB1IP     2-1491-003chr10:
26818715-26818715
GAintronicDe novo--Trost2022 G
APBB1IP     5-0105-003chr10:
26827364-26827364
GAintronicDe novo--Trost2022 G
Yuen2017 G
APBB1IP     1-1222-003chr10:
26801597-26801597
GAintronicDe novo--Trost2022 G
APBB1IP     MSSNG00218-003chr10:
26802822-26802822
CTintronicDe 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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