Variant Results

or

or

Results for "RTF1"

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

RTF1

mAGRE4936

chr15:
41709375-41709375

T

TG

exonic

Maternal

frameshift insertion

NM_015138

c.63dupG

p.L21fs

-

-

Cirnigliaro2023 G

RTF1

1-0385-003

chr15:
41750401-41750401

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RTF1

SP0016143

chr15:
41772812-41772812

C

T

exonic

De novo

nonsynonymous SNV

NM_015138

c.C2060T

p.P687L

12.37

Fu2022 E
Trost2022 G
Zhou2022 GE

RTF1

MSSNG00091-003

chr15:
41737785-41737785

C

G

intronic

De novo

-

-

Trost2022 G

RTF1

SP0011651

chr15:
41730547-41730547

G

A

exonic

De novo

nonsynonymous SNV

NM_015138

c.G227A

p.R76H

34.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RTF1

1-0340-004

chr15:
41737956-41737958

CAG

C

intronic

De novo

-

-

Trost2022 G

RTF1

AU031003

chr15:
41727990-41727990

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RTF1

SP0124549

chr15:
41763333-41763333

A

G

intronic

De novo

-

-

Fu2022 E
Trost2022 G

RTF1

2-1261-003

chr15:
41722560-41722560

C

T

intronic

De novo

-

-

Trost2022 G

RTF1

AU4487302

chr15:
41752757-41752757

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RTF1

SP0032850

chr15:
41766823-41766823

T

G

exonic

De novo

synonymous SNV

NM_015138

c.T1209G

p.A403A

-

-

Fu2022 E

RTF1

3-0368-000

chr15:
41727840-41727840

T

G

intronic

De novo

-

-

Trost2022 G

RTF1

SP0229322

chr15:
41709372-41709372

C

A

exonic

De novo

nonsynonymous SNV

NM_015138

c.C59A

p.P20Q

20.5

-

Trost2022 G

RTF1

1-1000-003A

chr15:
41714169-41714169

C

G

intronic

De novo

-

-

Trost2022 G

RTF1

1-1000-003

chr15:
41714169-41714169

C

G

intronic

De novo

-

-

Yuen2017 G

RTF1

10C108338

chr15:
41745214-41745214

A

C

exonic

De novo

nonsynonymous SNV

NM_015138

c.A425C

p.D142A

16.67

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RTF1

13942.p1

chr15:
41770503-41770503

G

A

intronic

De novo

-

-

Turner2016 G

RTF1

2007-24164

chr15:
41772874-41772874

G

A

exonic

nonsynonymous SNV

NM_015138

c.G2122A

p.G708R

23.5

-

Callaghan2019 G

RTF1

3-0025-000

chr15:
41745297-41745297

T

C

intronic

De novo

-

-

Trost2022 G

RTF1

2-1441-003

chr15:
41778667-41778667

C

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RTF1

AU2140306

chr15:
41753832-41753832

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RTF1

5096_202_child

chr15:
41745214-41745214

A

C

exonic

De novo

nonsynonymous SNV

NM_015138

c.A425C

p.D142A

16.67

-

Neale2012 E

RTF1

SP0017106

chr15:
41769454-41769454

G

A

exonic

De novo

nonsynonymous SNV

NM_015138

c.G1652A

p.R551H

36.0

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

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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