Variant Results

or

Results for "BRSK1"

Variant Events: 13

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

BRSK1

11944.p1

chr19:
55805700-55805701

GA

G

exonic

De novo

frameshift deletion

NM_032430

c.614delA

p.E205fs

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

BRSK1

Wang2023:344

chr19:
55798386-55798386

C

T

exonic

De novo

nonsynonymous SNV

NM_032430

c.C148T

p.L50F

23.1

-

Wang2023 E

BRSK1

SP0027039

chr19:
55814729-55814729

G

A

exonic

De novo

nonsynonymous SNV

NM_032430

c.G1079A

p.R360Q

31.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

BRSK1

AU054103

chr19:
55800528-55800528

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRSK1

2-1729-003

chr19:
55799913-55799913

G

A

intronic

De novo

-

Trost2022 G

BRSK1

2-1286-003

chr19:
55794928-55794928

C

G

upstream

De novo

-

Trost2022 G

BRSK1

SP0057211

chr19:
55815449-55815449

C

T

exonic

synonymous SNV

NM_032430

c.C1318T

p.L440L

-

Zhou2022 GE

BRSK1

2-0223-003

chr19:
55819488-55819488

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRSK1

SSC04165

chr19:
55805700-55805701

GA

G

exonic

De novo

frameshift deletion

NM_032430

c.614delA

p.E205fs

-

Fu2022 E
Trost2022 G

BRSK1

2-1279-003

chr19:
55806259-55806259

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRSK1

NDAR_INVNB971TGY_wes1

chr19:
55820037-55820037

A

G

exonic

De novo

nonsynonymous SNV

NM_032430

c.A2120G

p.E707G

20.5

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BRSK1

SP0151233

chr19:
55814112-55814112

G

A

exonic

De novo

nonsynonymous SNV

NM_032430

c.G905A

p.R302H

20.8

-

Trost2022 G

BRSK1

MT_67.3

chr19:
55812187-55812187

C

T

intronic

De novo

-

Trost2022 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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