Variant Results

or

Results for "RUVBL1"

Variant Events: 14

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

RUVBL1

11257.p1

chr3:
127806574-127806574

A

T

exonic

De novo

nonsynonymous SNV

NM_003707

c.T1094A

p.L365Q

18.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

RUVBL1

5337

chr3:
127806574-127806574

A

T

exonic

De novo

nonsynonymous SNV

NM_003707

c.T1094A

p.L365Q

18.0

-

Fu2022 E
Trost2022 G

RUVBL1

AU3903302

chr3:
127803689-127803689

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RUVBL1

MSSNG00031-003

chr3:
127867127-127867127

T

C

intergenic

De novo

-

Trost2022 G

RUVBL1

10-1155-004

chr3:
127834888-127834888

T

C

intronic

De novo

-

Trost2022 G

RUVBL1

MSSNG00250-003

chr3:
127844585-127844585

T

C

intergenic

De novo

-

Trost2022 G

RUVBL1

2-1506-003

chr3:
127839982-127839982

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RUVBL1

Marques2022:220

chr3:
127831806-127831806

T

C

exonic

nonsynonymous SNV

NM_003707

c.A286G

p.M96V

18.27

4.943E-5

Marques2022 ET

RUVBL1

AU054103

chr3:
127799334-127799334

C

A

downstream

De novo

-

Trost2022 G
Yuen2017 G

RUVBL1

Marques2022:219

chr3:
127823653-127823653

A

G

exonic

nonsynonymous SNV

NM_003707

c.T476C

p.I159T

24.7

8.258E-6

Marques2022 ET

RUVBL1

Lim2017:5337

chr3:
127806574-127806574

A

T

exonic

De novo

nonsynonymous SNV

NM_003707

c.T1094A

p.L365Q

18.0

-

Lim2017 E

RUVBL1

REACH000246

chr3:
127815957-127815957

C

G

intronic

De novo

-

Trost2022 G

RUVBL1

7-0017-003A

chr3:
127832641-127832641

T

C

intronic

De novo

-

Trost2022 G

RUVBL1

REACH000582

chr3:
127815202-127815202

C

T

intronic

De novo

-

Trost2022 G

Source Variant Information

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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
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