Variant Results

or

or

Results for "FARP1"

Variant Events: 25

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

FARP1

1-0120-003

chr13:
98987381-98987381

C

A

intronic

De novo

-

-

Yuen2017 G

FARP1

2-1380-003

chr13:
99007183-99007183

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

FARP1

1-0534-003

chr13:
98832575-98832575

A

T

intronic

De novo

-

-

Yuen2017 G

FARP1

SP0025563

chr13:
99037058-99037058

G

A

exonic

De novo

nonsynonymous SNV

NM_001286839
NM_005766

c.G571A
c.G571A

p.A191T
p.A191T

7.601

Fu2022 E

FARP1

12235.p1

chr13:
99100552-99100554

AAG

A

exonic

De novo

frameshift deletion

NM_005766
NM_001286839

c.3120_3121del
c.3213_3214del

p.K1040fs
p.K1071fs

-

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E

FARP1

SP0046238

chr13:
99092293-99092293

G

A

exonic

De novo

nonsynonymous SNV

NM_005766
NM_001286839

c.G2512A
c.G2605A

p.A838T
p.A869T

36.0

Fu2022 E

FARP1

2-0306-003

chr13:
98879834-98879834

T

C

intronic

De novo

-

-

Yuen2016 G

FARP1

AU4079302

chr13:
98934333-98934333

C

T

intronic

De novo

-

-

Yuen2017 G

FARP1

1-0496-003

chr13:
99014186-99014186

C

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

FARP1

SP0024252

chr13:
99042467-99042467

G

C

intronic

De novo

-

-

Fu2022 E

FARP1

PN400178

chr13:
99092998-99092998

C

T

exonic

Unknown

nonsynonymous SNV

NM_005766
NM_001286839

c.C2704T
c.C2797T

p.R902C
p.R933C

21.3

Leblond2019 E

FARP1

1-0629-003

chr13:
98839602-98839602

C

G

intronic

De novo

-

-

Yuen2017 G

FARP1

AU4283301

chr13:
99082462-99082462

C

T

intronic

De novo

-

-

Yuen2017 G

FARP1

2-1213-003

chr13:
98819233-98819233

G

A

intronic

De novo

-

-

Yuen2017 G

FARP1

AU2139301

chr13:
98794719-98794719

G

C

upstream

De novo

-

-

Yuen2017 G

FARP1

1-0107-003

chr13:
99035409-99035409

C

T

intronic

De novo

-

-

Yuen2017 G

FARP1

AU3885305

chr13:
98926053-98926053

G

C

intronic

De novo

-

-

Yuen2017 G

FARP1

AU4067303

chr13:
98954482-98954482

G

A

intronic

De novo

-

-

Yuen2017 G

FARP1

1-0570-003

chr13:
98921310-98921310

G

T

intronic

De novo

-

-

Yuen2017 G

FARP1

A3

chr13:
98899411-98899411

A

C

intronic

De novo

-

-

Wu2018 G

FARP1

AU2293302

chr13:
99044934-99044934

G

T

intronic

De novo

-

-

Yuen2017 G

FARP1

12235_p1

chr13:
99100552-99100554

AAG

A

exonic

De novo

frameshift deletion

NM_005766
NM_001286839

c.3120_3121del
c.3213_3214del

p.K1040fs
p.K1071fs

-

-

Fu2022 E

FARP1

2-0306-004

chr13:
98879834-98879834

T

C

intronic

De novo

-

-

Yuen2017 G

FARP1

2-0210-005

chr13:
98869631-98869631

C

T

intronic

De novo

-

-

Yuen2017 G

FARP1

PN400312

chr13:
99092998-99092998

C

T

exonic

Unknown

nonsynonymous SNV

NM_005766
NM_001286839

c.C2704T
c.C2797T

p.R902C
p.R933C

21.3

Leblond2019 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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