Variant Results

or

Results for "MRPS30"

Variant Events: 31

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

MRPS30

1-0454-003

chr5:
45067849-45067849

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MRPS30

2-1620-003

chr5:
45141218-45141218

C

T

intergenic

De novo

-

Yuen2017 G

MRPS30

AU031403

chr5:
44930322-44930327

AATTAT

AAT

intergenic

De novo

-

Yuen2017 G

MRPS30

1-0546-003

chr5:
44837205-44837205

T

C

intergenic

De novo

-

Yuen2017 G

MRPS30

AU3634301

chr5:
44854901-44854901

T

C

intergenic

De novo

-

Yuen2017 G

MRPS30

AU4463303

chr5:
45251121-45251121

C

T

intergenic

De novo

-

Yuen2017 G

MRPS30

11793.p1

chr5:
44809375-44809375

G

T

exonic

De novo

nonsynonymous SNV

NM_016640

c.G311T

p.R104L

25.1

-

Ji2016 E
Krumm2015 E

MRPS30

AU3053302

chr5:
45091344-45091344

T

C

intergenic

De novo

-

Yuen2017 G

MRPS30

2-1715-004

chr5:
44984543-44984546

GAGT

G

intergenic

De novo

-

Yuen2017 G

MRPS30

AU4191302

chr5:
45158042-45158042

C

T

intergenic

De novo

-

Yuen2017 G

MRPS30

2-1362-003

chr5:
44835555-44835555

G

A

intergenic

De novo

-

Yuen2017 G

MRPS30

AU3913302

chr5:
44946654-44946654

G

A

intergenic

De novo

-

Yuen2017 G

MRPS30

2-1715-003

chr5:
44984543-44984546

GAGT

G

intergenic

De novo

-

Yuen2017 G

MRPS30

A23

chr5:
45077653-45077653

A

G

intergenic

De novo

-

Wu2018 G

MRPS30

1-0155-003

chr5:
44860527-44860527

C

T

intergenic

De novo

-

Yuen2017 G

MRPS30

1-0568-003

chr5:
44831466-44831466

C

T

intergenic

De novo

-

Yuen2017 G

MRPS30

1-0210-004

chr5:
44915835-44915835

A

G

intergenic

De novo

-

Yuen2017 G

MRPS30

AU071204

chr5:
44865057-44865057

A

T

intergenic

De novo

-

Yuen2017 G

MRPS30

AU031003

chr5:
45101382-45101383

CT

CTT

intergenic

De novo

-

Yuen2017 G

MRPS30

2-1422-003

chr5:
45086262-45086262

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MRPS30

2-0307-003

chr5:
45167679-45167679

A

G

intergenic

De novo

-

Yuen2017 G

MRPS30

mAGRE6046

chr5:
44815152-44815152

A

T

exonic

Paternal

stopgain

NM_016640

c.A1168T

p.K390X

36.0

2.0E-4

Cirnigliaro2023 G

MRPS30

mAGRE5344

chr5:
44809392-44809392

A

AC

exonic

Paternal

frameshift insertion

NM_016640

c.329dupC

p.T110fs

-

Cirnigliaro2023 G

MRPS30

2-1195-003

chr5:
45154575-45154575

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MRPS30

AU2631301

chr5:
44815264-44815264

A

G

exonic

nonsynonymous SNV

NM_016640

c.A1280G

p.N427S

16.21

-

Zhou2022 GE

MRPS30

08C75361

chr5:
44815264-44815264

A

G

exonic

De novo

nonsynonymous SNV

NM_016640

c.A1280G

p.N427S

16.21

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MRPS30

SP0055280

chr5:
44809285-44809285

A

G

exonic

De novo

nonsynonymous SNV

NM_016640

c.A221G

p.E74G

8.612

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MRPS30

13942.p1

chr5:
44903808-44903808

G

A

intergenic

De novo

-

Turner2016 G

MRPS30

13946.p1

chr5:
44990850-44990850

G

T

intergenic

De novo

-

Turner2016 G

MRPS30

2-1231-003

chr5:
45244859-45244859

G

T

intergenic

De novo

-

Yuen2016 G

MRPS30

AU3907301

chr5:
44975208-44975208

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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