Variant Results

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Results for "RPAP1"

Variant Events: 23

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

RPAP1

mAGRE4803

chr15:
41812719-41812723

GAGAC

G

exonic

Paternal

frameshift deletion

NM_015540

c.3661_3664del

p.V1221fs

-

Cirnigliaro2023 G

RPAP1

Lim2017:36082

chr15:
41828848-41828848

C

A

splicing

De novo

splicing

19.2

-

Lim2017 E

RPAP1

SP0011006

chr15:
41827817-41827817

G

A

exonic

De novo

nonsynonymous SNV

NM_015540

c.C434T

p.T145I

11.4

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

RPAP1

mAGRE5694

chr15:
41836416-41836416

C

T

splicing

Maternal

splicing

-

-

Cirnigliaro2023 G

RPAP1

1-0563-003

chr15:
41825732-41825736

TAAAA

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RPAP1

mAGRE5693

chr15:
41836416-41836416

C

T

splicing

Maternal

splicing

-

-

Cirnigliaro2023 G

RPAP1

mAGRE5264

chr15:
41828413-41828413

G

A

exonic

Paternal

stopgain

NM_015540

c.C334T

p.R112X

28.4

Cirnigliaro2023 G

RPAP1

mAGRE1457

chr15:
41828413-41828413

G

A

exonic

Paternal

stopgain

NM_015540

c.C334T

p.R112X

28.4

Cirnigliaro2023 G

RPAP1

MSSNG00408-003

chr15:
41818349-41818349

T

C

intronic

De novo

-

-

Trost2022 G

RPAP1

SP0158002

chr15:
41826926-41826926

A

C

exonic

De novo

nonsynonymous SNV

NM_015540

c.T749G

p.L250W

21.6

-

Trost2022 G

RPAP1

4-0062-003

chr15:
41810752-41810752

T

C

intronic

De novo

-

-

Trost2022 G

RPAP1

1-0563-004

chr15:
41825732-41825736

TAAAA

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RPAP1

4-0062-003

chr15:
41810755-41810755

T

C

intronic

De novo

-

-

Trost2022 G

RPAP1

14301.p1

chr15:
41828848-41828848

C

A

splicing

De novo

splicing

19.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

RPAP1

4-0062-003

chr15:
41810739-41810743

ACATG

GCGTA

intronic

De novo

-

-

Trost2022 G

RPAP1

4-0062-003

chr15:
41810748-41810748

T

C

intronic

De novo

-

-

Trost2022 G

RPAP1

2-1459-003

chr15:
41822888-41822888

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

RPAP1

4-0062-003

chr15:
41810736-41810736

T

C

intronic

De novo

-

-

Trost2022 G

RPAP1

2-1129-003

chr15:
41808404-41808404

C

T

downstream

De novo

-

-

Yuen2016 G
Yuen2017 G

RPAP1

iHART1457

chr15:
41828413-41828413

G

A

exonic

Paternal

stopgain

NM_015540

c.C334T

p.R112X

28.4

Ruzzo2019 G

RPAP1

SP0098450

chr15:
41817263-41817263

A

C

exonic

De novo

synonymous SNV

NM_015540

c.T2001G

p.A667A

-

-

Fu2022 E

RPAP1

SP0075616

chr15:
41817263-41817263

A

C

exonic

De novo

synonymous SNV

NM_015540

c.T2001G

p.A667A

-

-

Fu2022 E

RPAP1

36082

chr15:
41828848-41828848

C

A

splicing

De novo

splicing

19.2

-

Fu2022 E
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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