Variant Results

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Results for "MROH7"

Variant Events: 17

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

MROH7

1360JS0006

chr1:
55161082-55161082

C

T

exonic

De novo

synonymous SNV

NM_001291332
NM_001039464

c.C1437T
c.C2883T

p.C479C
p.C961C

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MROH7

SP0049451

chr1:
55145645-55145645

G

A

exonic

De novo

nonsynonymous SNV

NM_001291332
NM_001039464

c.G862A
c.G2308A

p.V288I
p.V770I

9.618

Trost2022 G

MROH7

MSSNG00439-004

chr1:
55148429-55148429

G

A

exonic

De novo

nonsynonymous SNV

NM_001291332
NM_001039464

c.G1036A
c.G2482A

p.V346I
p.V828I

7.1

Trost2022 G

MROH7

iHART2528

chr1:
55136565-55136587

TGCAGGAGAAGGACGAGGCCAAG

T

exonic

Paternal

frameshift deletion

NM_001291332
NM_001039464

c.117_138del
c.1563_1584del

p.M39fs
p.M521fs

-

-

Ruzzo2019 G

MROH7

iHART2303

chr1:
55118705-55118705

C

T

exonic

Maternal

stopgain

NM_001039464

c.C106T

p.Q36X

23.6

Ruzzo2019 G

MROH7

mAGRE3090

chr1:
55167762-55167762

G

C

splicing

Maternal

splicing

15.2

Cirnigliaro2023 G

MROH7

mAGRE2528

chr1:
55136565-55136587

TGCAGGAGAAGGACGAGGCCAAG

T

exonic

Paternal

frameshift deletion

NM_001291332
NM_001039464

c.117_138del
c.1563_1584del

p.M39fs
p.M521fs

-

-

Cirnigliaro2023 G

MROH7

iHART3090

chr1:
55167762-55167762

G

C

splicing

Maternal

splicing

15.2

Ruzzo2019 G

MROH7

mAGRE2305

chr1:
55118705-55118705

C

T

exonic

Maternal

stopgain

NM_001039464

c.C106T

p.Q36X

23.6

Cirnigliaro2023 G

MROH7

mAGRE2303

chr1:
55118705-55118705

C

T

exonic

Maternal

stopgain

NM_001039464

c.C106T

p.Q36X

23.6

Cirnigliaro2023 G

MROH7

iHART2305

chr1:
55118705-55118705

C

T

exonic

Maternal

stopgain

NM_001039464

c.C106T

p.Q36X

23.6

Ruzzo2019 G

MROH7

12792.p1

chr1:
55167767-55167767

G

A

exonic

De novo

nonsynonymous SNV

NM_001291332
NM_001039464

c.G1844A
c.G3290A

p.R615Q
p.R1097Q

18.32

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

MROH7

09C87111

chr1:
55134612-55134612

T

C

splicing

De novo

splicing

15.84

-

Fu2022 E

MROH7

11354.p1

chr1:
55118710-55118710

C

T

exonic

De novo

synonymous SNV

NM_001039464

c.C111T

p.P37P

-

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

MROH7

SSC05830

chr1:
55167767-55167767

G

A

exonic

De novo

nonsynonymous SNV

NM_001291332
NM_001039464

c.G1844A
c.G3290A

p.R615Q
p.R1097Q

18.32

Fu2022 E
Trost2022 G

MROH7

SSC02558

chr1:
55118710-55118710

C

T

exonic

De novo

synonymous SNV

NM_001039464

c.C111T

p.P37P

-

-

Fu2022 E
Lim2017 E
Trost2022 G

MROH7

SP0120800

chr1:
55166846-55166846

A

C

exonic

nonsynonymous SNV

NM_001291332
NM_001039464

c.A1690C
c.A3136C

p.M564L
p.M1046L

13.91

-

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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