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Results for "FARP1"

Variant Events: 51

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     1-0120-003chr13:
98987381-98987381
CAintronicDe novo--Trost2022 G
Yuen2017 G
FARP1     1-0534-003chr13:
98832575-98832575
ATintronicDe novo--Trost2022 G
Yuen2017 G
FARP1     SP0025563chr13:
99037058-99037058
GAexonicDe novononsynonymous SNVNM_001286839
NM_005766
c.G571A
c.G571A
p.A191T
p.A191T
7.6011.649E-5Fu2022 E
Trost2022 G
Zhou2022 GE
FARP1     12235.p1chr13:
99100552-99100554
AAGAexonicDe novoframeshift deletionNM_005766
NM_001286839
c.3120_3121del
c.3213_3214del
p.K1040fs
p.K1071fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
FARP1     SP0046238chr13:
99092293-99092293
GAexonicDe novononsynonymous SNVNM_005766
NM_001286839
c.G2512A
c.G2605A
p.A838T
p.A869T
36.05.952E-5Fu2022 E
Trost2022 G
Zhou2022 GE
FARP1     2-0306-003chr13:
98879834-98879834
TCintronicDe novo--Yuen2016 G
FARP1     AU4079302chr13:
98934333-98934333
CTintronicDe novo--Trost2022 G
Yuen2017 G
FARP1     1-0496-003chr13:
99014186-99014186
CGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
FARP1     SP0024252chr13:
99042467-99042467
GCintronicDe novo--Fu2022 E
FARP1     1-0629-003chr13:
98839602-98839602
CGintronicDe novo--Trost2022 G
Yuen2017 G
FARP1     AU4283301chr13:
99082462-99082462
CTintronicDe novo--Trost2022 G
Yuen2017 G
FARP1     2-1213-003chr13:
98819233-98819233
GAintronicDe novo--Yuen2017 G
FARP1     AU2139301chr13:
98794719-98794719
GCupstreamDe novo--Trost2022 G
Yuen2017 G
FARP1     1-0107-003chr13:
99035409-99035409
CTintronicDe novo--Trost2022 G
Yuen2017 G
FARP1     AU3885305chr13:
98926053-98926053
GCintronicDe novo--Trost2022 G
Yuen2017 G
FARP1     A3chr13:
98899411-98899411
ACintronicDe novo--Wu2018 G
FARP1     AU2293302chr13:
99044934-99044934
GTintronicDe novo--Trost2022 G
Yuen2017 G
FARP1     12235_p1chr13:
99100552-99100554
AAGAexonicDe novoframeshift deletionNM_005766
NM_001286839
c.3120_3121del
c.3213_3214del
p.K1040fs
p.K1071fs
--Fu2022 E
FARP1     mAGRE5522chr13:
99100530-99100530
CTexonicMaternalstopgainNM_005766
NM_001286839
c.C3097T
c.C3190T
p.R1033X
p.R1064X
38.02.471E-5Cirnigliaro2023 G
FARP1     2-0306-004chr13:
98879834-98879834
TCintronicDe novo--Trost2022 G
Yuen2017 G
FARP1     2-0210-005chr13:
98869631-98869631
CTintronicDe novo--Trost2022 G
Yuen2017 G
FARP1     2-1380-003chr13:
99007183-99007183
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
FARP1     REACH000364chr13:
98822800-98822800
TCintronicDe novo--Trost2022 G
FARP1     7-0320-003chr13:
98849362-98849362
CGintronicDe novo--Trost2022 G
FARP1     MSSNG00355-003chr13:
98803312-98803312
CTintronicDe novo--Trost2022 G
FARP1     2-1487-003chr13:
98821395-98821395
CGintronicDe novo--Trost2022 G
FARP1     MSSNG00043-004Achr13:
98798962-98798962
AGintronicDe novo--Trost2022 G
FARP1     MSSNG00437-004chr13:
98799793-98799793
GCintronicDe novo--Trost2022 G
FARP1     10-0010-003chr13:
98930605-98930605
GAintronicDe novo--Trost2022 G
FARP1     3-0826-000chr13:
98937894-98937894
CTintronicDe novo--Trost2022 G
FARP1     REACH000001chr13:
98899532-98899532
CTintronicDe novo--Trost2022 G
FARP1     MSSNG00403-003chr13:
98903658-98903658
GAintronicDe novo--Trost2022 G
FARP1     V5T5W_01chr13:
98880524-98880524
GCintronicDe novo--Trost2022 G
FARP1     SJD_58.4chr13:
98891222-98891222
GAintronicDe novo--Trost2022 G
FARP1     PN400178chr13:
99092998-99092998
CTexonicUnknownnonsynonymous SNVNM_005766
NM_001286839
c.C2704T
c.C2797T
p.R902C
p.R933C
21.30.0057Leblond2019 E
FARP1     AU2355301chr13:
98849676-98849676
CTintronicDe novo--Trost2022 G
FARP1     2-0006-003chr13:
98851182-98851185
ACAAGCTCCintronicDe novo--Trost2022 G
FARP1     1-1130-003chr13:
99051954-99051954
ATintronicDe novo--Trost2022 G
FARP1     MT_156.3chr13:
99074609-99074609
GAintronicDe novo--Trost2022 G
FARP1     5-5146-005chr13:
99027202-99027202
CGintronicDe novo--Trost2022 G
FARP1     1-1066-003chr13:
99051666-99051666
GAintronicDe novo--Trost2022 G
FARP1     1-0750-003chr13:
99010693-99010693
AGintronicDe novo--Trost2022 G
FARP1     5-0039-003chr13:
99014894-99014894
GAintronicDe novo--Trost2022 G
FARP1     AU2463301chr13:
98984488-98984488
CTintronicDe novo--Trost2022 G
FARP1     MSSNG00414-003chr13:
98990581-98990581
AGintronicDe novo--Trost2022 G
FARP1     REACH000258chr13:
99095620-99095620
AGintronicDe novo--Trost2022 G
FARP1     AU4067303chr13:
98954482-98954482
GAintronicDe novo--Trost2022 G
Yuen2017 G
FARP1     3-0648-000chr13:
99086825-99086825
GAintronicDe novo--Trost2022 G
FARP1     AU2688301chr13:
99093807-99093807
CGintronicDe novo--Trost2022 G
FARP1     1-0570-003chr13:
98921310-98921310
GTintronicDe novo--Trost2022 G
Yuen2017 G
FARP1     PN400312chr13:
99092998-99092998
CTexonicUnknownnonsynonymous SNVNM_005766
NM_001286839
c.C2704T
c.C2797T
p.R902C
p.R933C
21.30.0057Leblond2019 E
Source Variant Information

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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 notesView
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