Variant Results

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Results for "RNF135"

Variant Events: 11

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

RNF135

2-1196-003

chr17:
29413085-29413085

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RNF135

AU073006

chr17:
29303833-29303833

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RNF135

4-0084-004

chr17:
29301090-29301090

C

T

intronic

De novo

-

-

Trost2022 G

RNF135

9-0027-003

chr17:
29323328-29323328

G

C

intronic

De novo

-

-

Trost2022 G

RNF135

AU3811301

chr17:
29339692-29339692

G

A

intergenic

De novo

-

-

Yuen2017 G

RNF135

AU052603

chr17:
29325924-29325925

GG

G

exonic

Paternal

frameshift deletion

NM_032322

c.1015delG

p.V339fs

-

-

Zhou2019 T

RNF135

AU095503

chr17:
29325924-29325925

GG

G

exonic

Paternal

frameshift deletion

NM_032322

c.1015delG

p.V339fs

-

-

Zhou2019 T

RNF135

5-0054-003

chr17:
29378127-29378127

G

A

intergenic

De novo

-

-

Yuen2017 G

RNF135

AU012804

chr17:
29330120-29330124

ACTCT

ACT

intergenic

De novo

-

-

Yuen2017 G

RNF135

AU4336301

chr17:
29321423-29321423

A

G

intronic

De novo

-

-

Yuen2017 G

RNF135

SP0059384

chr17:
29325917-29325917

G

A

exonic

nonsynonymous SNV

NM_032322

c.G1007A

p.R336H

18.8

Zhou2022 GE

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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