Variant Results

or

or

Results for "LARP4B"

Variant Events: 26

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

LARP4B

7-0024-003

chr10:
893090-893091

CA

GG

intronic

De novo

-

-

Trost2022 G

LARP4B

7-0024-003

chr10:
893098-893098

T

A

intronic

De novo

-

-

Trost2022 G

LARP4B

14093.p1

chr10:
876865-876867

TCA

T

exonic

De novo

frameshift deletion

NM_015155

c.801_802del

p.C267fs

-

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

LARP4B

31783

chr10:
876865-876867

TCA

T

exonic

De novo

frameshift deletion

NM_015155

c.801_802del

p.C267fs

-

-

Trost2022 G

LARP4B

SP0021672

chr10:
890903-890903

A

C

intronic

De novo

-

-

Trost2022 G

LARP4B

4-0095-003

chr10:
859688-859688

A

G

intronic

De novo

-

-

Trost2022 G

LARP4B

AU3900301

chr10:
891829-891829

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LARP4B

5-5023-003

chr10:
868712-868712

T

C

intronic

De novo

-

-

Trost2022 G

LARP4B

AU046506

chr10:
930345-930345

C

T

intronic

De novo

-

-

Trost2022 G

LARP4B

1-1005-005A

chr10:
940899-940899

C

A

intronic

De novo

-

-

Trost2022 G

LARP4B

SP0112522

chr10:
918987-918987

T

C

intronic

De novo

-

-

Trost2022 G

LARP4B

1-0753-003

chr10:
926129-926129

G

A

intronic

De novo

-

-

Trost2022 G

LARP4B

5-0053-003

chr10:
907386-907386

G

A

intronic

De novo

-

-

Trost2022 G

LARP4B

AU000704

chr10:
915875-915886

AATAATAATAAT

A

intronic

De novo

-

-

Trost2022 G

LARP4B

2-1415-004

chr10:
903206-903206

G

A

intronic

De novo

-

-

Trost2022 G

LARP4B

2-0018-004

chr10:
943800-943800

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LARP4B

7-0143-004

chr10:
904592-904592

G

A

intronic

De novo

-

-

Trost2022 G

LARP4B

3-0740-000A

chr10:
974716-974716

C

A

intronic

De novo

-

-

Trost2022 G

LARP4B

AU2296301

chr10:
977592-977592

C

T

UTR5

De novo

-

-

Trost2022 G

LARP4B

2-1066-003

chr10:
971838-971839

TC

AA

intronic

De novo

-

-

Trost2022 G

LARP4B

H3E8D_01

chr10:
972389-972389

G

A

intronic

De novo

-

-

Trost2022 G

LARP4B

1-1025-003

chr10:
957845-957845

A

C

intronic

De novo

-

-

Trost2022 G

LARP4B

1-1045-003

chr10:
968425-968425

T

C

intronic

De novo

-

-

Trost2022 G

LARP4B

PN400474

chr10:
860550-860554

CACAG

C

intronic

Unknown

-

Leblond2019 E

LARP4B

Wang2023:674

chr10:
871227-871227

G

A

exonic

De novo

nonsynonymous SNV

NM_015155

c.C1262T

p.A421V

15.08

Wang2023 E

LARP4B

PN400394

chr10:
860550-860554

CACAG

C

intronic

Unknown

-

Leblond2019 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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