Variant Results

or

Results for "KLHL1"

Variant Events: 66

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

KLHL1

MSSNG00020-003

chr13:
70419855-70419856

CA

C

intronic

De novo

-

Trost2022 G

KLHL1

MSSNG00020-003

chr13:
70419859-70419859

A

C

intronic

De novo

-

Trost2022 G

KLHL1

12529.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G

KLHL1

1-0630-003

chr13:
70411762-70411762

G

A

intronic

De novo

-

Trost2022 G

KLHL1

REACH000097

chr13:
70411764-70411764

A

C

intronic

De novo

-

Trost2022 G

KLHL1

REACH000409

chr13:
70402381-70402381

A

G

intronic

De novo

-

Trost2022 G

KLHL1

4-0073-003

chr13:
70403398-70403398

G

GGATCCACA

intronic

De novo

-

Trost2022 G

KLHL1

MSSNG00046-004

chr13:
70333171-70333171

T

C

intronic

De novo

-

Trost2022 G

KLHL1

AU050403

chr13:
70384872-70384872

C

CA

intronic

De novo

-

Trost2022 G

KLHL1

7-0331-003

chr13:
70497352-70497352

A

G

intronic

De novo

-

Trost2022 G

KLHL1

AU055603

chr13:
70512309-70512309

G

A

intronic

De novo

-

Trost2022 G

KLHL1

AU055603

chr13:
70478110-70478110

G

T

intronic

De novo

-

Trost2022 G

KLHL1

1-0148-005

chr13:
70390370-70390370

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

AU055603

chr13:
70491801-70491801

C

A

intronic

De novo

-

Trost2022 G

KLHL1

3-0229-000

chr13:
70433910-70433910

T

A

intronic

De novo

-

Trost2022 G

KLHL1

3-0229-000

chr13:
70434166-70434166

G

C

intronic

De novo

-

Trost2022 G

KLHL1

MSSNG00020-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

KLHL1

AU2320301

chr13:
70421278-70421278

C

A

intronic

De novo

-

Trost2022 G

KLHL1

AU2320301

chr13:
70627784-70627784

A

C

intronic

De novo

-

Trost2022 G

KLHL1

mAGRE1339

chr13:
70681596-70681596

G

T

exonic

Maternal

stopgain

NM_001286725
NM_020866

c.C236A
c.C236A

p.S79X
p.S79X

41.0

-

Cirnigliaro2023 G

KLHL1

7-0395-003

chr13:
70640274-70640274

G

A

intronic

De novo

-

Trost2022 G

KLHL1

mAGRE2142

chr13:
70549929-70549929

G

T

exonic

Paternal

stopgain

NM_020866

c.C503A

p.S168X

42.0

1.664E-5

Cirnigliaro2023 G

KLHL1

AU2227301

chr13:
70616899-70616899

G

T

intronic

De novo

-

Trost2022 G

KLHL1

1-1103-003

chr13:
70619224-70619224

T

A

intronic

De novo

-

Trost2022 G

KLHL1

7-0250-003

chr13:
70545429-70545452

TATCATCATCATCATCATCATCAT

TATCATCATCATCATCATCAT

intronic

De novo

-

Yuen2017 G

KLHL1

AU3900301

chr13:
70452488-70452488

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

AU2320301

chr13:
70548719-70548719

A

C

intronic

De novo

-

Trost2022 G

KLHL1

AU2320301

chr13:
70560753-70560753

A

C

intronic

De novo

-

Trost2022 G

KLHL1

MT_160.3

chr13:
70521898-70521898

T

C

intronic

De novo

-

Trost2022 G

KLHL1

AU2950302

chr13:
70551080-70551080

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

3-0646-000

chr13:
70526747-70526747

T

C

intronic

De novo

-

Trost2022 G

KLHL1

1-1135-003

chr13:
70679501-70679501

A

G

intronic

De novo

-

Trost2022 G

KLHL1

MSSNG00361-003

chr13:
70679525-70679525

T

C

intronic

De novo

-

Trost2022 G

KLHL1

MT_35.3

chr13:
70675871-70675871

T

C

intronic

De novo

-

Trost2022 G

KLHL1

2-1243-003

chr13:
70678351-70678351

A

G

intronic

De novo

-

Trost2022 G

KLHL1

1-0738-003

chr13:
70653403-70653403

T

A

intronic

De novo

-

Trost2022 G

KLHL1

MSSNG00232-003

chr13:
70671974-70671974

T

G

intronic

De novo

-

Trost2022 G

KLHL1

3-0661-000

chr13:
70490315-70490315

G

A

intronic

De novo

-

Yuen2017 G

KLHL1

MSSNG00004-003

chr13:
70645434-70645437

TAAG

T

intronic

De novo

-

Trost2022 G

KLHL1

MSSNG00363-004

chr13:
70651870-70651874

TCTAA

T

intronic

De novo

-

Trost2022 G

KLHL1

mAGRE1340

chr13:
70681596-70681596

G

T

exonic

Maternal

stopgain

NM_001286725
NM_020866

c.C236A
c.C236A

p.S79X
p.S79X

41.0

-

Cirnigliaro2023 G

KLHL1

AU3937301

chr13:
70362248-70362248

A

G

intronic

De novo

-

Yuen2017 G

KLHL1

AU3371303

chr13:
70439779-70439779

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

iHART1339

chr13:
70681596-70681596

G

T

exonic

Maternal

stopgain

NM_001286725
NM_020866

c.C236A
c.C236A

p.S79X
p.S79X

41.0

-

Ruzzo2019 G

KLHL1

iHART2142

chr13:
70549929-70549929

G

T

exonic

Paternal

stopgain

NM_020866

c.C503A

p.S168X

42.0

1.664E-5

Ruzzo2019 G

KLHL1

iHART1340

chr13:
70681596-70681596

G

T

exonic

Maternal

stopgain

NM_001286725
NM_020866

c.C236A
c.C236A

p.S79X
p.S79X

41.0

-

Ruzzo2019 G

KLHL1

AU3371301

chr13:
70473147-70473147

C

T

intronic

De novo

-

Yuen2017 G

KLHL1

12854.p1

chr13:
70549704-70549704

C

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

KLHL1

2-1277-004

chr13:
70475839-70475839

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

7-0044-003

chr13:
70579264-70579264

C

T

intronic

De novo

-

Yuen2017 G

KLHL1

2-1510-003

chr13:
70364157-70364163

CTATTTA

CTA

intronic

De novo

-

Yuen2017 G

KLHL1

Cukier2014:17342

chr13:
70370894-70370894

T

C

exonic

Unknown

nonsynonymous SNV

NM_001286725
NM_020866

c.A1432G
c.A1615G

p.M478V
p.M539V

19.49

-

Cukier2014 E

KLHL1

1-0010-005

chr13:
70438563-70438563

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

1-0271-004

chr13:
70470230-70470230

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

AU031003

chr13:
70455255-70455255

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

1-0325-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

1-0338-005

chr13:
70637827-70637827

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

2-1381-003

chr13:
70444739-70444739

G

C

intronic

De novo

-

Yuen2017 G

KLHL1

AU3632301

chr13:
70455361-70455361

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

152-HSC0079

chr13:
70514228-70514228

A

T

exonic

Inherited

nonsynonymous SNV

NM_001286725
NM_020866

c.T775A
c.T958A

p.F259I
p.F320I

32.0

-

Patowary2019 E

KLHL1

2-1567-003

chr13:
70524318-70524318

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

5-0083-003

chr13:
70619725-70619725

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

2-1522-003

chr13:
70581787-70581787

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

2-1292-003

chr13:
70568516-70568516

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL1

MSSNG00203-003

chr13:
70281741-70281741

C

T

intronic

De novo

-

1.68E-5

Trost2022 G

KLHL1

AU2310301

chr13:
70330159-70330159

T

G

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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