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Results for "NFIA"

Variant Events: 86

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
NFIA     MT_160.3chr1:
61775363-61775363
GCintronicDe novo--Trost2022 G
NFIA     MT_87.3chr1:
61773871-61773871
GAintronicDe novo--Trost2022 G
NFIA     2-0296-004chr1:
61784014-61784014
AGintronicDe novo--Trost2022 G
NFIA     MSSNG00402-003chr1:
61775475-61775475
TGintronicDe novo--Trost2022 G
NFIA     1-0215-006chr1:
62088291-62088291
GAintergenicDe novo--Yuen2017 G
NFIA     4-0023-004chr1:
61740298-61740298
CTintronicDe novo--Trost2022 G
NFIA     MSSNG00235-003chr1:
61653544-61653544
GAintronicDe novo--Trost2022 G
NFIA     ACGC_SD0062.p1chr1:
61554055-61554055
CTexonicUnknownstopgainNM_001134673
NM_001145511
NM_005595
NM_001145512
c.C262T
c.C238T
c.C262T
c.C397T
p.R88X
p.R80X
p.R88X
p.R133X
42.0-Wang2020 T
NFIA     REACH000537chr1:
61757693-61757693
GAintronicDe novo--Trost2022 G
NFIA     3-0544-000chr1:
61755966-61755966
GAintronicDe novo--Trost2022 G
NFIA     AU4429301chr1:
61779729-61779729
CTintronicDe novo--Trost2022 G
Yuen2017 G
NFIA     2-1261-004chr1:
61857029-61857029
CTintronicDe novo--Trost2022 G
NFIA     2-1242-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2016 G
Yuen2017 G
NFIA     AU3846303chr1:
61713234-61713234
CTintronicDe novo--Yuen2017 G
NFIA     2-1261-004chr1:
61857022-61857024
GTTATCintronicDe novo--Trost2022 G
NFIA     1-0278-003Achr1:
61886660-61886660
CTintronicDe novo--Trost2022 G
NFIA     MT_20.3chr1:
61878287-61878287
CTintronicDe novo--Trost2022 G
NFIA     MSSNG00397-003chr1:
61806235-61806235
GCintronicDe novo--Trost2022 G
NFIA     REACH000731chr1:
61800763-61800763
TCintronicDe novo--Trost2022 G
NFIA     REACH000096chr1:
61829617-61829617
ACintronicDe novo--Trost2022 G
NFIA     3-0072-000chr1:
61814399-61814399
CTintronicDe novo--Trost2022 G
NFIA     AU3052301chr1:
61691748-61691748
AGintronicDe novo--Trost2022 G
Yuen2017 G
NFIA     AU4054302chr1:
61991724-61991724
TAintergenicDe novo--Yuen2017 G
NFIA     1-0182-003chr1:
61899830-61899830
AATintronicDe novo--Trost2022 G
NFIA     7-0291-003Achr1:
61886992-61886992
CTintronicDe novo--Trost2022 G
NFIA     14370.p1chr1:
61699921-61699921
CTintronicDe novo--Turner2016 G
NFIA     REACH000754chr1:
61554263-61554263
CCTAAexonicDe novononframeshift insertionNM_001134673
NM_001145511
NM_005595
NM_001145512
c.470_471insTAA
c.446_447insTAA
c.470_471insTAA
c.605_606insTAA
p.S157delinsSN
p.S149delinsSN
p.S157delinsSN
p.S202delinsSN
--Trost2022 G
Zhou2022 GE
NFIA     11252.p1chr1:
61587930-61587930
CTintronicDe novo--Turner2016 G
NFIA     3-0391-000chr1:
61444952-61444952
CTintergenicDe novo--Yuen2017 G
NFIA     5-5130-003chr1:
61554181-61554181
GCexonicDe novononsynonymous SNVNM_001134673
NM_001145511
NM_005595
NM_001145512
c.G388C
c.G364C
c.G388C
c.G523C
p.D130H
p.D122H
p.D130H
p.D175H
22.3-Trost2022 G
Zhou2022 GE
NFIA     ACGC_GX0482.p1chr1:
61824863-61824863
CGexonicUnknownnonsynonymous SNVNM_001134673
NM_001145511
NM_005595
NM_001145512
c.C863G
c.C839G
c.C863G
c.C998G
p.P288R
p.P280R
p.P288R
p.P333R
27.3-Wang2020 T
NFIA     ACGC_M18917chr1:
61892190-61892190
CTexonicUnknownnonsynonymous SNVNM_001134673
NM_001145511
NM_001145512
c.C1474T
c.C1450T
c.C1609T
p.R492W
p.R484W
p.R537W
25.2-Wang2020 T
NFIA     ACGC_HN0055.p1chr1:
61892161-61892161
CTexonicUnknownnonsynonymous SNVNM_001134673
NM_001145511
NM_001145512
c.C1445T
c.C1421T
c.C1580T
p.P482L
p.P474L
p.P527L
23.6-Wang2020 T
NFIA     2-1466-003chr1:
62066131-62066131
TAintergenicDe novo--Yuen2016 G
NFIA     AU069603chr1:
61508744-61508744
GAintergenicDe novo--Yuen2017 G
NFIA     1-0278-003chr1:
61886660-61886660
CTintronicDe novo--Yuen2016 G
NFIA     M15210chr1:
61824914-61824914
GAexonicPaternalnonsynonymous SNVNM_001134673
NM_001145511
NM_005595
NM_001145512
c.G914A
c.G890A
c.G914A
c.G1049A
p.S305N
p.S297N
p.S305N
p.S350N
31.03.299E-5Guo2018 T
Wang2016 T
NFIA     ACGC_M08873chr1:
61547681-61547681
CAexonicUnknownstopgainNM_001145512c.C66Ap.C22X36.0-Wang2020 T
NFIA     M18917chr1:
61892190-61892190
CTexonicUnknownnonsynonymous SNVNM_001134673
NM_001145511
NM_001145512
c.C1474T
c.C1450T
c.C1609T
p.R492W
p.R484W
p.R537W
25.2-Stessman2017 T
NFIA     M12382chr1:
61892175-61892175
GAexonicPaternalnonsynonymous SNVNM_001134673
NM_001145511
NM_001145512
c.G1459A
c.G1435A
c.G1594A
p.V487I
p.V479I
p.V532I
35.0-Guo2018 T
Wang2016 T
NFIA     Leuven_114928chr1:
61824947-61824947
GCsplicingUnknownsplicing25.7-Wang2020 T
NFIA     2-0109-003chr1:
61858987-61858987
GCintronicDe novo--Yuen2017 G
NFIA     G002682chr1:
61849013-61849013
CTexonicstopgainNM_001134673
NM_001145511
NM_005595
NM_001145512
c.C1051T
c.C1027T
c.C1051T
c.C1186T
p.R351X
p.R343X
p.R351X
p.R396X
41.0-Sanchis-Juan2023 G
NFIA     M08873chr1:
61547681-61547681
CAexonicUnknownstopgainNM_001145512c.C66Ap.C22X36.0-Guo2018 T
Wang2016 T
NFIA     AU011604chr1:
61508775-61508775
GAintergenicDe novo--Yuen2017 G
NFIA     SP0032002chr1:
61547738-61547738
CGintronicDe novo--Fu2022 E
NFIA     1-0054-003chr1:
61938371-61938371
CTintergenicDe novo--Yuen2017 G
NFIA     1-0209-003chr1:
61912406-61912406
TCintronicDe novo--Trost2022 G
Yuen2017 G
NFIA     SSC08191chr1:
61553905-61553905
CTexonicDe novostopgainNM_001134673
NM_001145511
NM_005595
NM_001145512
c.C112T
c.C88T
c.C112T
c.C247T
p.R38X
p.R30X
p.R38X
p.R83X
40.0-Antaki2022 GE
Chan2022 G
Lim2017 E
Trost2022 G
NFIA     7-0160-003chr1:
61545075-61545075
CTintronicDe novo--Trost2022 G
Yuen2017 G
NFIA     SSC10510chr1:
61818236-61818236
CTexonicDe novononsynonymous SNVNM_001134673
NM_001145511
NM_005595
NM_001145512
c.C815T
c.C791T
c.C815T
c.C950T
p.T272M
p.T264M
p.T272M
p.T317M
21.18.249E-6Fu2022 E
Lim2017 E
Trost2022 G
NFIA     SP0110616chr1:
61872231-61872231
CAintronicDe novo-8.671E-5Fu2022 E
Trost2022 G
NFIA     AU3811301chr1:
61901551-61901551
GCintronicDe novo--Trost2022 G
Yuen2017 G
NFIA     SD0062.p1chr1:
61554055-61554055
CTexonicUnknownstopgainNM_001134673
NM_001145511
NM_005595
NM_001145512
c.C262T
c.C238T
c.C262T
c.C397T
p.R88X
p.R80X
p.R88X
p.R133X
42.0-Guo2018 T
NFIA     13670.p1chr1:
61553905-61553905
CTexonicDe novostopgainNM_001134673
NM_001145511
NM_005595
NM_001145512
c.C112T
c.C88T
c.C112T
c.C247T
p.R38X
p.R30X
p.R38X
p.R83X
40.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lowther2023 G
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
NFIA     AU076704chr1:
61580307-61580307
CTintronicDe novo--Yuen2017 G
NFIA     3-0448-000 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
NFIA     AU3764302chr1:
61943269-61943269
CGintergenicDe novo--Yuen2017 G
NFIA     AU3847302chr1:
61827779-61827779
GTintronicDe novo--Trost2022 G
Yuen2017 G
NFIA     5-0033-004chr1:
61573076-61573076
TAintronicDe novo--Trost2022 G
Yuen2017 G
NFIA     AU076704chr1:
61898123-61898123
CTintronicDe novo--Trost2022 G
Yuen2017 G
NFIA     AU3847302chr1:
61563060-61563060
ATintronicDe novo--Yuen2017 G
NFIA     13043.p1chr1:
61567399-61567400
ATAintronicDe novo--Wilfert2021 G
NFIA     Radboud_11-08689chr1:
61872391-61872391
CAexonicMaternalnonsynonymous SNVNM_001134673
NM_001145511
NM_005595
NM_001145512
c.C1412A
c.C1388A
c.C1412A
c.C1547A
p.T471K
p.T463K
p.T471K
p.T516K
35.0-Wang2020 T
NFIA     Radboud_11-08685chr1:
61872391-61872391
CAexonicMaternalnonsynonymous SNVNM_001134673
NM_001145511
NM_005595
NM_001145512
c.C1412A
c.C1388A
c.C1412A
c.C1547A
p.T471K
p.T463K
p.T471K
p.T516K
35.0-Wang2020 T
NFIA     AU4159301chr1:
61893738-61893738
CTintronicDe novo--Trost2022 G
Yuen2017 G
NFIA     2-0135-003chr1:
61818513-61818513
ACintronicDe novo--Trost2022 G
Yuen2017 G
NFIA     Uddin2014:26chr1:
61553905-61553905
CTexonicDe novostopgainNM_001134673
NM_001145511
NM_005595
NM_001145512
c.C112T
c.C88T
c.C112T
c.C247T
p.R38X
p.R30X
p.R38X
p.R83X
40.0-Uddin2014 E
NFIA     14127.p1chr1:
61818236-61818236
CTexonicDe novononsynonymous SNVNM_001134673
NM_001145511
NM_005595
NM_001145512
c.C815T
c.C791T
c.C815T
c.C950T
p.T272M
p.T264M
p.T272M
p.T317M
21.18.249E-6Ji2016 E
Krumm2015 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
NFIA     A23chr1:
61809970-61809970
CGintronicDe novo--Wu2018 G
NFIA     SP0092082chr1:
61547728-61547728
ATintronicDe novo--Trost2022 G
NFIA     AU3905301chr1:
61826865-61826865
CTintronicDe novo--Trost2022 G
Yuen2017 G
NFIA     AU3907302chr1:
61653987-61653987
AGintronicDe novo--Trost2022 G
Yuen2017 G
NFIA     AU2168301chr1:
61542547-61542547
GAupstreamDe novo--Trost2022 G
NFIA     REACH000252chr1:
61596094-61596094
ACintronicDe novo--Trost2022 G
NFIA     MSSNG00256-004chr1:
61560620-61560620
TCintronicDe novo--Trost2022 G
NFIA     1-0618-003chr1:
61628511-61628511
CTintronicDe novo--Trost2022 G
NFIA     1-0618-003chr1:
61628509-61628509
GTintronicDe novo--Trost2022 G
NFIA     3-0095-000chr1:
61650512-61650512
CTintronicDe novo--Trost2022 G
NFIA     3-0531-000chr1:
61640812-61640812
TCintronicDe novo--Trost2022 G
NFIA     2-1823-004chr1:
61601646-61601646
GAintronicDe novo--Trost2022 G
NFIA     MSSNG00112-003chr1:
61598808-61598808
AATintronicDe novo--Trost2022 G
NFIA     1-0181-004chr1:
61469422-61469422
GAintergenicDe novo--Yuen2017 G
NFIA     2-1723-003chr1:
61619662-61619664
CTTTCAintronicDe novo--Trost2022 G
NFIA     1-0508-003chr1:
61533341-61533341
GTintergenicDe novo--Yuen2017 G
NFIA     7-0351-004chr1:
61612916-61612916
GAintronicDe novo--Trost2022 G
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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