Variant Results

or

or

Results for "MRVI1"

Variant Events: 15

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

MRVI1

AU3634301

chr11:
10675942-10675942

A

C

intronic

De novo

-

-

Yuen2017 G

MRVI1

1-0263-003

chr11:
10635709-10635709

C

G

intronic

De novo

-

-

Yuen2016 G

MRVI1

13557.p1

chr11:
10724027-10724027

C

CTCAA

intergenic

De novo

-

-

Werling2018 G

MRVI1

AU4033305

chr11:
10672111-10672112

TG

TGG

intronic

De novo

-

-

Yuen2017 G

MRVI1

AU4013303

chr11:
10623446-10623446

G

A

intronic

De novo

-

-

Yuen2017 G

MRVI1

13757.p1

chr11:
10651133-10651133

T

G

exonic

De novo

nonsynonymous SNV

NM_001098579
NM_001100163
NM_001206880
NM_130385

c.A499C
c.A253C
c.A526C
c.A526C

p.T167P
p.T85P
p.T176P
p.T176P

17.07

Satterstrom2020 E

MRVI1

1-0453-003

chr11:
10742434-10742434

A

C

intergenic

De novo

-

-

Yuen2017 G

MRVI1

2-1562-004

chr11:
10739952-10739952

A

C

intergenic

De novo

-

-

Yuen2017 G

MRVI1

1-0080-003

chr11:
10715556-10715556

C

T

upstream

De novo

-

-

Yuen2017 G

MRVI1

2-1269-003

chr11:
10731372-10731379

TCAGATTC

TCAGATTCCAGATTC

intergenic

De novo

-

-

Yuen2017 G

MRVI1

AU070007

chr11:
10708651-10708651

A

T

intronic

De novo

-

-

Yuen2017 G

MRVI1

AU2000304

chr11:
10697279-10697279

C

T

intronic

De novo

-

-

Yuen2017 G

MRVI1

AU4433301

chr11:
10763412-10763419

CAGAGTCT

C

intergenic

De novo

-

-

Yuen2017 G

MRVI1

SP0116020

chr11:
10648118-10648119

CT

C

exonic

De novo

frameshift deletion

NM_001098579
NM_001100163
NM_130385

c.738delA
c.489delA
c.762delA

p.K246fs
p.K163fs
p.K254fs

-

-

Fu2022 E

MRVI1

1-0972-003

chr11:
10727191-10727191

C

T

intergenic

De novo

-

-

Yuen2017 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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