Variant Results

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Results for "RFC3"

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

RFC3

1-0338-003

chr13:
34493332-34493332

C

T

intronic

De novo

-

-

Yuen2017 G

RFC3

1-0627-005

chr13:
34770743-34770749

ATTTTTT

ATTTTTTT

intergenic

De novo

-

-

Yuen2017 G

RFC3

AU2427303

chr13:
34619309-34619309

A

G

intergenic

De novo

-

-

Yuen2017 G

RFC3

iHART2255

chr13:
34400003-34400005

ACT

A

exonic

Paternal

frameshift deletion

NM_002915
NM_181558

c.372_373del
c.372_373del

p.N124fs
p.N124fs

-

Ruzzo2019 G

RFC3

iHART2259

chr13:
34399945-34399945

C

T

exonic

Paternal

stopgain

NM_002915
NM_181558

c.C313T
c.C313T

p.R105X
p.R105X

38.0

Ruzzo2019 G

RFC3

iHART2253

chr13:
34400003-34400005

ACT

A

exonic

Paternal

frameshift deletion

NM_002915
NM_181558

c.372_373del
c.372_373del

p.N124fs
p.N124fs

-

Ruzzo2019 G

RFC3

AU073005

chr13:
34635060-34635060

T

C

intergenic

De novo

-

-

Yuen2017 G

RFC3

2-1215-003

chr13:
34711477-34711477

T

G

intergenic

De novo

-

-

Yuen2017 G

RFC3

2-1153-003

chr13:
34609129-34609129

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RFC3

5-0087-003

chr13:
34854212-34854212

C

T

intergenic

De novo

-

-

Yuen2017 G

RFC3

AU3912302

chr13:
34965775-34965775

G

C

intergenic

De novo

-

-

Yuen2017 G

RFC3

AU1687303

chr13:
34944426-34944426

T

A

intergenic

De novo

-

-

Yuen2017 G

RFC3

7-0174-003

chr13:
34567446-34567446

T

C

intergenic

De novo

-

-

Yuen2017 G

RFC3

SP0011952

chr13:
34410275-34410275

G

C

exonic

De novo

nonsynonymous SNV

NM_002915

c.G914C

p.G305A

13.15

-

Fu2022 E

RFC3

2-0197-004

chr13:
34793855-34793855

G

C

intergenic

De novo

-

-

Yuen2017 G

RFC3

2-0219-004

chr13:
34570615-34570615

C

T

intergenic

De novo

-

-

Yuen2017 G

RFC3

7-0068-003

chr13:
34909912-34909912

G

A

intergenic

De novo

-

-

Yuen2017 G

RFC3

2-0305-003

chr13:
34652931-34652931

T

TGTGTGTGCATCAATGTGTGTATATGTGTGAATGA

intergenic

De novo

-

-

Yuen2017 G

RFC3

5-0018-003

chr13:
34737328-34737328

G

GGCAT

intergenic

De novo

-

-

Yuen2017 G

RFC3

AU3725302

chr13:
34648838-34648838

A

G

intergenic

De novo

-

-

Yuen2017 G

RFC3

3-0391-000

chr13:
34859516-34859516

C

A

intergenic

De novo

-

-

Yuen2017 G

RFC3

AU2248302

chr13:
34733345-34733345

C

T

intergenic

De novo

-

-

Yuen2017 G

RFC3

AU4476302

chr13:
34649081-34649081

A

G

intergenic

De novo

-

-

Yuen2017 G

RFC3

5-0071-003

chr13:
34419379-34419379

G

A

intronic

De novo

-

-

Yuen2017 G

RFC3

AU4013303

chr13:
34781518-34781518

C

A

intergenic

De novo

-

-

Yuen2017 G

RFC3

AU1894304

chr13:
34417912-34417912

C

T

intronic

De novo

-

-

Yuen2017 G

RFC3

AU1687302

chr13:
34944426-34944426

T

A

intergenic

De novo

-

-

Yuen2017 G

RFC3

1-0305-004

chr13:
34958347-34958347

C

T

intergenic

De novo

-

-

Yuen2017 G

RFC3

AU3586303

chr13:
34460208-34460209

AC

A

intronic

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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