Variant Results

or

Results for "KAZN"

Variant Events: 41

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

KAZN

1-0104-003

chr1:
15177358-15177358

C

A

intronic

De novo

-

Yuen2017 G

KAZN

2-1245-003

chr1:
14953016-14953016

G

A

intronic

De novo

-

Yuen2017 G

KAZN

1-0219-003

chr1:
15215052-15215052

G

A

intronic

De novo

-

Yuen2017 G

KAZN

DEASD_0415_001

chr1:
15386640-15386640

T

G

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

KAZN

1-0494-003A

chr1:
15145490-15145490

G

A

intronic

De novo

-

Yuen2017 G

KAZN

SP0031498

chr1:
15428042-15428042

G

A

exonic

De novo

synonymous SNV

NM_201628

c.G1551A

p.L517L

-

Fu2022 E

KAZN

AU3861302

chr1:
14956158-14956158

G

C

intronic

De novo

-

Yuen2017 G

KAZN

SP0046250

chr1:
15393254-15393254

A

T

UTR3

De novo

-

Fu2022 E

KAZN

SP0021010

chr1:
15250769-15250769

C

A

UTR5

De novo

-

Fu2022 E

KAZN

2-1152-003

chr1:
14945824-14945824

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KAZN

AU3368302

chr1:
15030780-15030780

C

T

intronic

De novo

-

Yuen2017 G

KAZN

11063.p1

chr1:
15392255-15392256

GC

G

exonic

De novo

frameshift deletion

NM_001017999
NM_001018000
NM_001018001
NM_015209

c.947delC
c.1211delC
c.947delC
c.1229delC

p.A316fs
p.A404fs
p.A316fs
p.A410fs

-

Wilfert2021 G

KAZN

AU4168306

chr1:
15124481-15124481

A

C

intronic

De novo

-

Yuen2017 G

KAZN

A5

chr1:
14947875-14947875

G

A

intronic

De novo

-

Wu2018 G

KAZN

12680.p1

chr1:
14938384-14938384

G

A

intronic

De novo

-

Turner2016 G

KAZN

AU4233301

chr1:
15004927-15004927

T

C

intronic

De novo

-

Yuen2017 G

KAZN

1-0595-005

chr1:
15082578-15082578

G

A

intronic

De novo

-

Yuen2017 G

KAZN

NDAR_INVAR462JT4_wes1

chr1:
15430600-15430600

G

A

exonic

De novo

nonsynonymous SNV

NM_201628

c.G1963A

p.A655T

35.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

KAZN

1-0763-003

chr1:
15004678-15004678

G

C

intronic

De novo

-

Yuen2017 G

KAZN

1-0067-004

chr1:
15272840-15272840

T

TTTTTTTTTTTTAATTCTCTC

intronic

De novo

-

Yuen2017 G

KAZN

AU2711303

chr1:
15369721-15369721

G

A

intronic

De novo

-

Yuen2017 G

KAZN

13677_p1

chr1:
15382658-15382658

G

A

exonic

De novo

synonymous SNV

NM_001017999
NM_001018000
NM_001018001
NM_015209
NM_201628

c.G516A
c.G780A
c.G516A
c.G798A
c.G798A

p.T172T
p.T260T
p.T172T
p.T266T
p.T266T

-

Fu2022 E

KAZN

7-0119-003

chr1:
15209291-15209291

C

T

intronic

De novo

-

Yuen2017 G

KAZN

1-0494-003

chr1:
15145490-15145490

G

A

intronic

De novo

-

Yuen2017 G

KAZN

3-0447-000

chr1:
15238777-15238777

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KAZN

2-1521-003

chr1:
15114853-15114853

G

A

intronic

De novo

-

Yuen2017 G

KAZN

SP0018075

chr1:
15386918-15386918

C

T

intronic

De novo

-

Fu2022 E

KAZN

3-0437-000

chr1:
15155312-15155312

G

A

intronic

De novo

-

Yuen2016 G

KAZN

IGM13013

chr1:
15361306-15361306

G

A

exonic

De novo

synonymous SNV

NM_001017999
NM_001018000
NM_001018001
NM_015209
NM_201628

c.G198A
c.G462A
c.G198A
c.G480A
c.G480A

p.Q66Q
p.Q154Q
p.Q66Q
p.Q160Q
p.Q160Q

-

Fu2022 E

KAZN

AU1404301

chr1:
15038992-15038992

C

T

intronic

De novo

-

Yuen2017 G

KAZN

2-1696-003

chr1:
15207335-15207335

G

A

intronic

De novo

-

Yuen2017 G

KAZN

1-0279-004

chr1:
15194449-15194449

A

AGCATATGCGG

intronic

De novo

-

Yuen2017 G

KAZN

1-0278-003

chr1:
15371699-15371699

G

A

intronic

De novo

-

Yuen2016 G

KAZN

AU1933301

chr1:
14930963-14930963

G

A

intronic

De novo

-

Yuen2017 G

KAZN

3-0439-000

chr1:
15228623-15228623

C

T

intronic

De novo

-

Yuen2016 G

KAZN

AU047704

chr1:
15230501-15230501

C

T

intronic

De novo

-

Yuen2017 G

KAZN

2-1369-003

chr1:
15135393-15135393

C

G

intronic

De novo

-

Yuen2016 G

KAZN

2-0145-004

chr1:
15281094-15281094

C

T

intronic

De novo

-

Yuen2017 G

KAZN

13677.p1

chr1:
15382658-15382658

G

A

exonic

De novo

synonymous SNV

NM_001017999
NM_001018000
NM_001018001
NM_015209
NM_201628

c.G516A
c.G780A
c.G516A
c.G798A
c.G798A

p.T172T
p.T260T
p.T172T
p.T266T
p.T266T

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

KAZN

A7

chr1:
15398612-15398612

C

T

intronic

De novo

-

Wu2018 G

KAZN

1-0079-003

chr1:
15100710-15100710

G

GAAC

intronic

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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