Variant Results

or

or

Results for "ALKAL2"

Variant Events: 25

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

SP0066131

chr2:
288199-288199

C

T

UTR5

De novo

-

-

Fu2022 E

ALKAL2

AU2139301

chr2:
386200-386200

G

A

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

AU071203

chr2:
626168-626168

G

A

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

SP0057007

chr2:
288123-288123

C

G

UTR5

De novo

-

-

Fu2022 E

ALKAL2

74-0352

chr2:
295879-295879

A

G

intergenic

De novo

-

-

Michaelson2012 G

ALKAL2

74-0115

chr2:
519482-519482

G

T

intergenic

De novo

-

-

Michaelson2012 G

ALKAL2

AU4465303

chr2:
366833-366833

T

A

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

AU031204

chr2:
582823-582828

GGCAGC

GGC

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

1-0458-003

chr2:
432776-432776

G

A

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

2-1129-003

chr2:
460636-460636

A

T

intergenic

De novo

-

-

Yuen2016 G

ALKAL2

1-0024-003

chr2:
508207-508207

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ALKAL2

AU4485302

chr2:
594034-594034

C

T

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

5-0105-003

chr2:
640303-640303

G

A

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

AU058104

chr2:
500160-500160

G

A

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

AU4496301

chr2:
658143-658143

A

G

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

1-0555-003

chr2:
433161-433161

C

T

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

1-0490-003

chr2:
485738-485738

C

A

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

1-0555-003

chr2:
431326-431326

G

T

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

1-0555-003

chr2:
430373-430373

C

G

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

1-0555-003

chr2:
429463-429463

C

G

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

2-1213-003

chr2:
628867-628867

T

G

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

1-0763-004

chr2:
643113-643113

G

A

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

2-1617-003

chr2:
330594-330594

G

A

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

1-0336-003

chr2:
543693-543693

T

G

intergenic

De novo

-

-

Yuen2017 G

ALKAL2

AU0638302

chr2:
396774-396774

T

C

intergenic

De novo

-

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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