Variant Results

or

or

Results for "ALPK3"

Variant Events: 20

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

ALPK3

1-0206-005

chr15:
85397797-85397798

TT

CG

intronic

De novo

-

-

Trost2022 G

ALPK3

2-1066-004

chr15:
85397797-85397798

TT

CG

intronic

De novo

-

-

Trost2022 G

ALPK3

2-0270-003

chr15:
85383755-85383755

G

A

exonic

De novo

synonymous SNV

NM_020778

c.G1851A

p.L617L

-

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

ALPK3

09C99824

chr15:
85360351-85360351

C

T

exonic

De novo

nonsynonymous SNV

NM_020778

c.C274T

p.R92C

12.89

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ALPK3

MSSNG00329-003

chr15:
85406059-85406059

G

A

exonic

De novo

synonymous SNV

NM_020778

c.G4929A

p.T1643T

-

-

Trost2022 G
Zhou2022 GE

ALPK3

2-0214-004

chr15:
85403309-85403309

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ALPK3

5-0111-003

chr15:
85403233-85403233

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ALPK3

2-1169-004

chr15:
85381667-85381667

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ALPK3

7-0354-004

chr15:
85410775-85410775

C

T

intronic

De novo

-

-

Trost2022 G

ALPK3

5-5123-005

chr15:
85413767-85413767

G

A

UTR3

De novo

-

-

Trost2022 G

ALPK3

2-1195-003

chr15:
85375825-85375825

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ALPK3

MSSNG00098-003

chr15:
85403492-85403492

A

G

intronic

De novo

-

-

Trost2022 G

ALPK3

2-0305-003

chr15:
85405905-85405905

A

T

exonic

De novo

nonsynonymous SNV

NM_020778

c.A4775T

p.K1592M

19.47

-

Trost2022 G

ALPK3

SP0050670

chr15:
85401651-85401651

C

T

exonic

De novo

nonsynonymous SNV

NM_020778

c.C4288T

p.R1430W

13.53

Fu2022 E
Trost2022 G
Zhou2022 GE

ALPK3

1339JS0038

chr15:
85401772-85401772

A

G

exonic

De novo

nonsynonymous SNV

NM_020778

c.A4409G

p.K1470R

14.01

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ALPK3

6263

chr15:
85383265-85383265

A

G

exonic

De novo

nonsynonymous SNV

NM_020778

c.A1361G

p.E454G

15.99

Fu2022 E

ALPK3

mAGRE5605

chr15:
85400424-85400424

C

T

exonic

Maternal

stopgain

NM_020778

c.C3061T

p.R1021X

38.0

-

Cirnigliaro2023 G

ALPK3

11084_p1

chr15:
85360777-85360777

C

T

exonic

De novo

nonsynonymous SNV

NM_020778

c.C700T

p.P234S

22.3

-

Fu2022 E

ALPK3

SP0128755

chr15:
85384004-85384004

C

G

exonic

De novo

synonymous SNV

NM_020778

c.C2100G

p.P700P

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ALPK3

SP0092886

chr15:
85400482-85400482

G

T

exonic

De novo

nonsynonymous SNV

NM_020778

c.G3119T

p.C1040F

10.97

Fu2022 E
Trost2022 G
Zhou2022 GE

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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