Variant Results

or

Results for "LOXHD1"

Variant Events: 28

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

LOXHD1

2-0202-003

chr18:
44234403-44234403

C

G

intronic

De novo

-

Yuen2017 G

LOXHD1

2-0298-004

chr18:
44172473-44172473

C

A

exonic

De novo

nonsynonymous SNV

NM_144612

c.G1506T

p.W502C

14.59

-

Yuen2015 G

LOXHD1

AU3638302

chr18:
44095456-44095456

G

C

intronic

De novo

-

Yuen2017 G

LOXHD1

SP0022760

chr18:
44101055-44101055

C

G

intronic

De novo

-

4.804E-5

Fu2022 E
Zhou2022 GE

LOXHD1

SP0007459

chr18:
44109071-44109071

A

C

intronic

De novo

-

Fu2022 E

LOXHD1

SP0126405

chr18:
44140008-44140008

C

G

intronic

De novo

-

Fu2022 E

LOXHD1

SP0008814

chr18:
44139517-44139517

C

CCGGCCTTGGGCACATT

exonic

De novo

frameshift insertion

NM_144612

c.3109_3110insAATGTGCCCAAGGCCG

p.G1037fs

-

Fu2022 E
Zhou2022 GE

LOXHD1

G01-GEA-335_HI

chr18:
44219746-44219746

G

C

exonic

De novo

nonsynonymous SNV

NM_144612

c.C344G

p.T115R

14.88

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LOXHD1

08C78371

chr18:
44087510-44087510

C

T

exonic

De novo

nonsynonymous SNV

NM_001145473
NM_001173129
NM_001308013
NM_001145472
NM_144612

c.G400A
c.G400A
c.G2062A
c.G2350A
c.G5497A

p.D134N
p.D134N
p.D688N
p.D784N
p.D1833N

5.667

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LOXHD1

2-1719-003

chr18:
44102052-44102052

A

G

intronic

De novo

-

Yuen2017 G

LOXHD1

2-1391-003

chr18:
44197896-44197896

G

C

intronic

De novo

-

Yuen2017 G

LOXHD1

AU2764301

chr18:
44152048-44152048

C

T

splicing

28.6

-

Zhou2022 GE

LOXHD1

AU4079302

chr18:
44070081-44070081

C

T

intronic

De novo

-

Yuen2017 G

LOXHD1

AU3610302

chr18:
44080995-44080995

G

A

intronic

De novo

-

Yuen2017 G

LOXHD1

2-0018-004

chr18:
44245841-44245841

C

A

intergenic

De novo

-

Yuen2017 G

LOXHD1

AU3865301

chr18:
44139159-44139159

C

T

UTR5

De novo

-

Yuen2017 G

LOXHD1

mAGRE4781

chr18:
44102147-44102147

G

A

exonic

Maternal

stopgain

NM_001308013
NM_001145472
NM_144612

c.C1381T
c.C1669T
c.C5002T

p.R461X
p.R557X
p.R1668X

38.0

-

Cirnigliaro2023 G

LOXHD1

mAGRE5324

chr18:
44098197-44098197

C

T

exonic

Maternal

stopgain

NM_001145473
NM_001173129
NM_001308013
NM_001145472
NM_144612

c.G11A
c.G11A
c.G1673A
c.G1961A
c.G5108A

p.W4X
p.W4X
p.W558X
p.W654X
p.W1703X

40.0

-

Cirnigliaro2023 G

LOXHD1

A27

chr18:
44171322-44171322

G

A

intronic

De novo

-

Wu2018 G

LOXHD1

08C76578

chr18:
44152048-44152048

C

T

splicing

De novo

splicing

28.6

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LOXHD1

mAGRE5023

chr18:
44065089-44065090

GC

G

exonic

Maternal

frameshift deletion

NM_001145473
NM_001173129
NM_001308013
NM_001145472
NM_144612

c.791delG
c.791delG
c.2453delG
c.2741delG
c.5888delG

p.G264fs
p.G264fs
p.G818fs
p.G914fs
p.G1963fs

-

Cirnigliaro2023 G

LOXHD1

12296.p1

chr18:
44140062-44140062

G

T

exonic

De novo

synonymous SNV

NM_144612

c.C3045A

p.G1015G

5.651

-

Krumm2015 E

LOXHD1

2-0238-004

chr18:
44231083-44231083

C

T

intronic

De novo

-

Yuen2017 G

LOXHD1

mAGRE5955

chr18:
44137863-44137863

A

G

splicing

Maternal

splicing

-

Cirnigliaro2023 G

LOXHD1

1-1000-003

chr18:
44136916-44136919

CCAC

CC

intronic

De novo

-

Yuen2017 G

LOXHD1

3C143

chr18:
44140020-44140020

A

ACCCCCCCCCCCCCCCCCC

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

LOXHD1

5-0071-003

chr18:
44129897-44129897

T

C

intronic

De novo

-

Yuen2017 G

LOXHD1

Disecmas_221P

chr18:
44229198-44229198

G

A

exonic

De novo

synonymous SNV

NM_144612

c.C165T

p.R55R

10.08

-

Fu2022 E

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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