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Results for "ALKAL2"

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
ALKAL2     5-0105-003chr2:
640303-640303
GAintergenicDe novo--Yuen2017 G
ALKAL2     AU058104chr2:
500160-500160
GAintergenicDe novo--Yuen2017 G
ALKAL2     AU2139301chr2:
386200-386200
GAintergenicDe novo--Yuen2017 G
ALKAL2     AU071203chr2:
626168-626168
GAintergenicDe novo--Yuen2017 G
ALKAL2     74-0352chr2:
295879-295879
AGintergenicDe novo--Michaelson2012 G
ALKAL2     74-0115chr2:
519482-519482
GTintergenicDe novo--Michaelson2012 G
ALKAL2     AU4496301chr2:
658143-658143
AGintergenicDe novo--Yuen2017 G
ALKAL2     1-0555-003chr2:
433161-433161
CTintergenicDe novo--Yuen2017 G
ALKAL2     1-0490-003chr2:
485738-485738
CAintergenicDe novo--Yuen2017 G
ALKAL2     1-0555-003chr2:
431326-431326
GTintergenicDe novo--Yuen2017 G
ALKAL2     1-0555-003chr2:
430373-430373
CGintergenicDe novo--Yuen2017 G
ALKAL2     1-0555-003chr2:
429463-429463
CGintergenicDe novo--Yuen2017 G
ALKAL2     AU4465303chr2:
366833-366833
TAintergenicDe novo--Yuen2017 G
ALKAL2     AU031204chr2:
582823-582828
GGCAGCGGCintergenicDe novo--Yuen2017 G
ALKAL2     1-0458-003chr2:
432776-432776
GAintergenicDe novo--Yuen2017 G
ALKAL2     2-1213-003chr2:
628867-628867
TGintergenicDe novo--Yuen2017 G
ALKAL2     1-0763-004chr2:
643113-643113
GAintergenicDe novo--Yuen2017 G
ALKAL2     2-1617-003chr2:
330594-330594
GAintergenicDe novo--Yuen2017 G
ALKAL2     2-1129-003chr2:
460636-460636
ATintergenicDe novo--Yuen2016 G
ALKAL2     1-0024-003chr2:
508207-508207
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ALKAL2     1-0336-003chr2:
543693-543693
TGintergenicDe novo--Yuen2017 G
ALKAL2     AU0638302chr2:
396774-396774
TCintergenicDe novo--Yuen2017 G
ALKAL2     AU4485302chr2:
594034-594034
CTintergenicDe 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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