Variant Results

or

Results for "MR1"

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

MR1

2-1269-003

chr1:
181004365-181004365

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MR1

AU3765302

chr1:
181047196-181047196

C

G

intergenic

De novo

-

Yuen2017 G

MR1

7-0161-003

chr1:
181009208-181009208

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MR1

A1328B

chr1:
181022707-181022707

A

G

splicing

De novo

splicing

16.14

-

Fu2022 E

MR1

AU4235303

chr1:
181008012-181008012

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MR1

4-0102-003

chr1:
181013320-181013320

C

T

intronic

De novo

-

Trost2022 G

MR1

SP0247030

chr1:
181022820-181022820

G

C

intronic

De novo

-

Trost2022 G

MR1

12685.p1

chr1:
181021601-181021601

C

T

exonic

De novo

nonsynonymous SNV

NM_001194999
NM_001531

c.C700T
c.C835T

p.H234Y
p.H279Y

11.78

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Zhou2022 GE

MR1

SSC05067

chr1:
181021601-181021601

C

T

exonic

De novo

nonsynonymous SNV

NM_001194999
NM_001531

c.C700T
c.C835T

p.H234Y
p.H279Y

11.78

-

Fu2022 E
Lim2017 E

MR1

1-0218-003

chr1:
181022542-181022542

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MR1

11341.p1

chr1:
181035638-181035638

C

A

intergenic

De novo

-

Turner2016 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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