Variant Results

or

or

Results for "KATNAL1"

Variant Events: 21

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

KATNAL1

MT_182.4

chr13:
30857062-30857062

A

G

intronic

De novo

-

-

Trost2022 G

KATNAL1

1-1045-003

chr13:
30861123-30861123

T

C

intronic

De novo

-

-

Trost2022 G

KATNAL1

3-0706-000A

chr13:
30819475-30819475

C

T

intronic

De novo

-

-

Trost2022 G

KATNAL1

3-0208-000

chr13:
30852411-30852411

G

A

intronic

De novo

-

-

Trost2022 G

KATNAL1

1-0274-003

chr13:
30807768-30807768

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KATNAL1

MSSNG00037-003

chr13:
30799623-30799623

A

T

intronic

De novo

-

-

Trost2022 G

KATNAL1

1-0144-004

chr13:
30792657-30792657

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KATNAL1

4-0062-003

chr13:
30806001-30806002

CA

AT

intronic

De novo

-

-

Trost2022 G

KATNAL1

1-0274-004

chr13:
30807768-30807768

A

G

intronic

De novo

-

-

Yuen2017 G

KATNAL1

4-0037-004

chr13:
30777381-30777381

T

G

UTR3

De novo

-

-

Trost2022 G

KATNAL1

mAGRE5842

chr13:
30829674-30829675

TC

T

exonic

Maternal

frameshift deletion

NM_001014380
NM_032116

c.401delG
c.401delG

p.G134fs
p.G134fs

-

-

Cirnigliaro2023 G

KATNAL1

05HI3915A

chr13:
30857896-30857896

A

C

exonic

De novo

nonsynonymous SNV

NM_001014380
NM_032116

c.T19G
c.T19G

p.C7G
p.C7G

16.26

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KATNAL1

3-0322-000

chr13:
30875095-30875095

A

G

intronic

De novo

-

-

Trost2022 G

KATNAL1

12493.p1

chr13:
30875893-30875893

G

A

intronic

De novo

-

-

Turner2016 G

KATNAL1

1-0448-003

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_001014380
NM_032116
NM_001014380
NM_032116

c.597_598del
c.597_598del
c.596_597del
c.596_597del

p.V199fs
p.V199fs
p.V199fs
p.V199fs

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

KATNAL1

5-0065-003

chr13:
30862003-30862003

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KATNAL1

2-0126-004

chr13:
30890630-30890630

T

C

intergenic

De novo

-

-

Yuen2017 G

KATNAL1

3-0448-000

chr13:
30901256-30901256

G

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

KATNAL1

05C49422

chr13:
30805653-30805653

A

C

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

KATNAL1

2-1152-003

chr13:
30820830-30820830

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

KATNAL1

AU4154303

chr13:
30779743-30779743

C

T

UTR3

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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