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Results for "ACAP2"

Variant Events: 15

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
ACAP2     1-0107-003chr3:
195188933-195188933
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
ACAP2     1-0330-003chr3:
195072284-195072284
GAintronicDe novo--Yuen2017 G
ACAP2     AU3786301chr3:
195097823-195097823
TCintronicDe novo--Yuen2017 G
ACAP2     AU3649304chr3:
195140630-195140630
TCintronicDe novo--Yuen2017 G
ACAP2     AU4006302chr3:
195166248-195166248
AGintergenicDe novo--Yuen2017 G
ACAP2     AU030104chr3:
195152947-195152947
CAintronicDe novo--Yuen2017 G
ACAP2     2-0289-003chr3:
195140399-195140399
TCintronicDe novo--Yuen2017 G
ACAP2     200675765@1082034184chr3:
195063205-195063205
GAexonicDe novononsynonymous SNVNM_012287c.C523Tp.L175F13.9-Satterstrom2020 E
ACAP2     AU4379301chr3:
195040705-195040705
GAintronicDe novo--Yuen2017 G
ACAP2     AU030103chr3:
195152947-195152947
CAintronicDe novo--Yuen2017 G
ACAP2     AU3913302chr3:
195187023-195187023
CTintergenicDe novo--Yuen2017 G
ACAP2     Chen2017:128chr3:
195063205-195063205
GAexonicDe novononsynonymous SNVNM_012287c.C523Tp.L175F13.9-Chen2017 E
ACAP2     200675765_1082034184chr3:
195063205-195063205
GAexonicDe novononsynonymous SNVNM_012287c.C523Tp.L175F13.9-Fu2022 E
ACAP2     2-1373-003chr3:
195177706-195177706
CTintergenicDe novo--Yuen2017 G
ACAP2     1-0121-003chr3:
195160344-195160375
GTTTTTTTGTTTTTTTTGTTTTTTTTGTTTTTGTTTTTTTGTTTTTTTTGTTTTTintronicDe novo--Yuen2017 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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