Variant Results

or

or

Results for "MPRIP"

Variant Events: 18

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

MPRIP

SP0060274

chr17:
17067897-17067898

GC

G

intronic

De novo

-

-

Fu2022 E
Trost2022 G

MPRIP

SP0117915

chr17:
17050624-17050624

C

A

intronic

De novo

-

Fu2022 E
Trost2022 G

MPRIP

74-0481

chr17:
17050657-17050657

G

A

exonic

Inherited

nonsynonymous SNV

NM_015134
NM_201274

c.G1231A
c.G1231A

p.A411T
p.A411T

9.003

Patowary2019 E

MPRIP

SSC06920

chr17:
17039561-17039561

C

CCAGCAGCAG

exonic

De novo

nonframeshift insertion

NM_015134
NM_201274

c.533_534insCAGCAGCAG
c.533_534insCAGCAGCAG

p.T178delinsTSSS
p.T178delinsTSSS

-

-

Fu2022 E

MPRIP

SP0130990

chr17:
17071088-17071088

C

G

intronic

De novo

13.22

-

Fu2022 E

MPRIP

1-0366-003

chr17:
17083924-17083924

G

A

exonic

De novo

nonsynonymous SNV

NM_201274

c.G3049A

p.V1017I

19.54

Yuen2015 G

MPRIP

SP0124842

chr17:
17046108-17046108

A

C

intronic

De novo

-

-

Fu2022 E

MPRIP

AU2123301

chr17:
17101086-17101086

A

G

intergenic

De novo

-

-

Yuen2017 G

MPRIP

AU3912301

chr17:
17066172-17066172

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MPRIP

7-0023-003

chr17:
17047910-17047910

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MPRIP

MSSNG00023-004

chr17:
17066581-17066581

C

A

intronic

De novo

-

-

Trost2022 G

MPRIP

MSSNG00004-003

chr17:
17075630-17075630

A

G

intronic

De novo

-

-

Trost2022 G

MPRIP

1-1119-003

chr17:
17037936-17037936

T

A

intronic

De novo

-

-

Trost2022 G

MPRIP

7-0453-003

chr17:
17041402-17041402

C

T

intronic

De novo

-

Trost2022 G

MPRIP

3-0294-000

chr17:
16989915-16989915

A

G

intronic

De novo

-

-

Trost2022 G

MPRIP

1-1100-003

chr17:
17034394-17034394

G

T

intronic

De novo

-

-

Trost2022 G

MPRIP

MSSNG00095-003

chr17:
16953363-16953363

C

T

intronic

De novo

-

-

Trost2022 G

MPRIP

14-547

chr17:
16989231-16989232

CA

C

intronic

De novo

-

-

Trost2022 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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