Variant Results

or

or

Results for "CLUH"

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

CLUH

AU4235301

chr17:
2592291-2592291

T

C

downstream

De novo

-

-

Trost2022 G
Yuen2017 G

CLUH

2-1207-003

chr17:
2595709-2595709

G

A

exonic

De novo

nonsynonymous SNV

NM_015229

c.C3389T

p.A1130V

36.0

-

Yuen2016 G

CLUH

1-0736-003

chr17:
2623331-2623331

G

A

intergenic

De novo

-

-

Yuen2017 G

CLUH

SP0198951

chr17:
2598120-2598120

A

C

intronic

De novo

-

-

Trost2022 G

CLUH

SP0015073

chr17:
2599445-2599445

T

A

intronic

De novo

-

-

Trost2022 G

CLUH

mAGRE2963

chr17:
2601804-2601804

G

C

exonic

De novo

nonsynonymous SNV

NM_015229

c.C1233G

p.S411R

17.47

-

Cirnigliaro2023 G

CLUH

iHART2963

chr17:
2601804-2601804

G

C

exonic

De novo

nonsynonymous SNV

NM_015229

c.C1233G

p.S411R

17.47

-

Ruzzo2019 G

CLUH

MSSNG00341-004

chr17:
2593232-2593232

C

T

UTR3

De novo

-

-

Trost2022 G

CLUH

AU2248302

chr17:
2598818-2598818

C

CAA

exonic

Paternal

frameshift insertion

NM_015229

c.2276_2277insTT

p.V759fs

-

-

Cirnigliaro2023 G

CLUH

AU2248301

chr17:
2598818-2598818

C

CAA

exonic

Paternal

frameshift insertion

NM_015229

c.2276_2277insTT

p.V759fs

-

-

Cirnigliaro2023 G

CLUH

2-1206-003

chr17:
2639199-2639199

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CLUH

1-0490-003

chr17:
2621853-2621866

ATGTGTGTGTGTGT

ATGTGTGTGTGT

intergenic

De novo

-

-

Yuen2017 G

CLUH

2-1206-003

chr17:
2641027-2641027

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CLUH

08C76716

chr17:
2600150-2600150

C

G

exonic

De novo

nonsynonymous SNV

NM_015229

c.G1934C

p.G645A

3.957

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CLUH

7-0059-003

chr17:
2623106-2623106

T

TGCA

intergenic

De novo

-

-

Yuen2017 G

CLUH

SP0012629

chr17:
2595640-2595640

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

CLUH

MSSNG00106-003

chr17:
2600633-2600633

C

T

intronic

De novo

-

-

Trost2022 G

CLUH

133341

chr17:
2597205-2597205

C

T

exonic

nonsynonymous SNV

NM_015229

c.G3103A

p.D1035N

25.8

Woodbury-Smith2022 E

CLUH

SP0102345

chr17:
2601294-2601294

G

A

exonic

De novo

synonymous SNV

NM_015229

c.C1743T

p.G581G

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CLUH

SP0199261

chr17:
2604161-2604161

G

C

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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