Variant Results

or

Results for "PRPF8"

Variant Events: 29

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

PRPF8

mAGRE4765

chr17:
1557288-1557288

G

A

exonic

Maternal

stopgain

NM_006445

c.C6010T

p.Q2004X

47.0

-

Cirnigliaro2023 G

PRPF8

SSC03174

chr17:
1584115-1584115

G

A

exonic

De novo

nonsynonymous SNV

NM_006445

c.C1003T

p.P335S

19.76

8.237E-6

Fu2022 E
Trost2022 G

PRPF8

12838.p1

chr17:
1563704-1563704

T

C

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E

PRPF8

F1729-1

chr17:
1563799-1563799

A

C

exonic

De novo

nonsynonymous SNV

NM_006445

c.T4712G

p.I1571S

20.8

-

Montenegro2019 E

PRPF8

11015

chr17:
1558836-1558836

G

C

exonic

De novo

nonsynonymous SNV

NM_006445

c.C5795G

p.A1932G

22.2

-

Fu2022 E

PRPF8

SP0004507

chr17:
1559846-1559846

T

C

exonic

De novo

nonsynonymous SNV

NM_006445

c.A5633G

p.D1878G

26.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

PRPF8

13999.p1

chr17:
1582562-1582562

G

A

intronic

Mosaic

-

2.473E-5

Dou2017 E

PRPF8

4-0073-003

chr17:
1560583-1560584

GA

AT

intronic

De novo

-

Trost2022 G

PRPF8

MT_15.3

chr17:
1576125-1576125

T

G

intronic

De novo

-

Trost2022 G

PRPF8

SP0240123

chr17:
1580450-1580450

C

T

exonic

De novo

synonymous SNV

NM_006445

c.G2001A

p.G667G

-

Trost2022 G

PRPF8

2-1362-004

chr17:
1572650-1572650

T

G

intronic

De novo

-

Trost2022 G

PRPF8

AU3712302

chr17:
1580946-1580946

C

T

exonic

De novo

nonsynonymous SNV

NM_006445

c.G1897A

p.G633S

21.7

8.315E-6

Yuen2017 G
Zhou2022 GE

PRPF8

1-0202-003

chr17:
1573470-1573470

G

A

intronic

De novo

-

Trost2022 G

PRPF8

AU2950302

chr17:
1562371-1562371

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRPF8

Lim2017:11015

chr17:
1558836-1558836

G

C

exonic

De novo

nonsynonymous SNV

NM_006445

c.C5795G

p.A1932G

22.2

-

Lim2017 E

PRPF8

2-1362-004

chr17:
1572640-1572640

T

C

intronic

De novo

-

Trost2022 G

PRPF8

2-1362-004

chr17:
1572645-1572646

CA

TG

intronic

De novo

-

Trost2022 G

PRPF8

SSC06078

chr17:
1563704-1563704

T

C

intronic

De novo

-

Trost2022 G

PRPF8

2-1362-004

chr17:
1572632-1572633

TT

CTCA

intronic

De novo

-

Trost2022 G

PRPF8

JASD_Fam0108

chr17:
1561966-1561966

G

A

exonic

De novo

nonsynonymous SNV

NM_006445

c.C5230T

p.R1744C

20.9

-

Takata2018 E

PRPF8

AU070703

chr17:
1597394-1597394

T

C

intergenic

De novo

-

Yuen2017 G

PRPF8

SP0151665

chr17:
1581822-1581822

C

T

exonic

De novo

nonsynonymous SNV

NM_006445

c.G1844A

p.R615H

34.0

-

Trost2022 G

PRPF8

7-0387-004

chr17:
1584325-1584325

T

C

exonic

De novo

nonsynonymous SNV

NM_006445

c.A890G

p.N297S

19.92

2.476E-5

Trost2022 G

PRPF8

11825.p1

chr17:
1584115-1584115

G

A

exonic

De novo

nonsynonymous SNV

NM_006445

c.C1003T

p.P335S

19.76

8.237E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

PRPF8

11387.p1

chr17:
1561694-1561694

C

T

intronic

Mosaic Mat.

-

Dou2017 E

PRPF8

AU2100302

chr17:
1580858-1580858

C

G

splicing

De novo

splicing

24.6

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

PRPF8

SP0096283

chr17:
1587826-1587826

C

T

exonic

De novo

nonsynonymous SNV

NM_006445

c.G40A

p.V14M

18.53

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PRPF8

SP0031229

chr17:
1562866-1562866

T

G

intronic

De novo

-

Fu2022 E
Trost2022 G

PRPF8

SP0044787

chr17:
1560118-1560119

GA

G

intronic

De novo

-

Fu2022 E

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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