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Results for "AIG1"

Variant Events: 22

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
AIG1     AU030103chr6:
143626342-143626348
GTTTTTTGTTTTTTTintronicDe novo--Yuen2017 G
AIG1     1-0375-003chr6:
143467653-143467668
TTCTCTCTCTCTCTCTTTCTCTCTCTCTCTintronicDe novo--Yuen2017 G
AIG1     1-0329-004chr6:
143714882-143714882
TTCintergenicDe novo--Yuen2017 G
AIG1     2-1173-003chr6:
143696496-143696496
ATintergenicDe novo--Yuen2017 G
AIG1     AU1764301chr6:
143650122-143650122
GAintronicDe novo--Yuen2017 G
AIG1     2-0088-003chr6:
143504623-143504623
GAintronicDe novo--Yuen2017 G
AIG1     2-1322-004chr6:
143612246-143612246
GCintronicDe novo--Yuen2017 G
AIG1     2-1169-004chr6:
143715857-143715857
CTintergenicDe novo--Yuen2017 G
AIG1     AU3881301chr6:
143738628-143738628
AGintergenicDe novo--Yuen2017 G
AIG1     1-0912-003chr6:
143687418-143687418
ATintergenicDe novo--Yuen2017 G
AIG1     2-1398-004chr6:
143529781-143529781
CTintronicDe novo--Yuen2017 G
AIG1     AU4283301chr6:
143665592-143665592
GTintergenicDe novo--Yuen2017 G
AIG1     1-0075-003chr6:
143709041-143709041
ATintergenicDe novo--Yuen2017 G
AIG1     7-0223-003chr6:
143450519-143450519
CTintronicDe novo--Yuen2017 G
AIG1     2-1427-003chr6:
143622818-143622818
CTintronicDe novo--Yuen2017 G
AIG1     2-1343-003chr6:
143713146-143713146
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
AIG1     AU030104chr6:
143626342-143626348
GTTTTTTGTTTTTTTintronicDe novo--Yuen2017 G
AIG1     12498.p1chr6:
143548149-143548149
ATintronicDe novo--Turner2016 G
AIG1     AU2427301chr6:
143452594-143452594
AGintronicDe novo--Yuen2017 G
AIG1     1-0206-005chr6:
143561705-143561705
TCintronicDe novo--Yuen2017 G
AIG1     AU2458303chr6:
143626304-143626310
CAAAAAACAAAAAAAintronicDe novo--Yuen2017 G
AIG1     AU2485305chr6:
143614304-143614304
ACintronicDe novo--Yuen2017 G
Source Variant Information

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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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