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Results for "NFIA"

Variant Events: 48

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     M08873chr1:
61547681-61547681
CAexonicUnknownstopgainNM_001145512c.C66Ap.C22X36.0-Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
NFIA     AU011604chr1:
61508775-61508775
GAintergenicDe novo--Yuen2017 G
NFIA     1-0215-006chr1:
62088291-62088291
GAintergenicDe novo--Yuen2017 G
NFIA     1-0054-003chr1:
61938371-61938371
CTintergenicDe novo--Yuen2017 G
NFIA     1-0209-003chr1:
61912406-61912406
TCintronicDe novo--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-Lim2017 E
NFIA     7-0160-003chr1:
61545075-61545075
CTintronicDe novo--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-6Lim2017 E
NFIA     AU4429301chr1:
61779729-61779729
CTintronicDe novo--Yuen2017 G
NFIA     2-1242-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
NFIA     AU3846303chr1:
61713234-61713234
CTintronicDe novo--Yuen2017 G
NFIA     114928chr1:
61824947-61824947
GCsplicingUnknownsplicing25.7-Wang2020 T
Wang2020 T
Wang2020 T
NFIA     AU3811301chr1:
61901551-61901551
GCintronicDe novo--Yuen2017 G
NFIA     AU3052301chr1:
61691748-61691748
AGintronicDe novo--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
Wang2020 T
Wang2020 T
NFIA     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
Wang2020 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
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
NFIA     AU076704chr1:
61580307-61580307
CTintronicDe novo--Yuen2017 G
NFIA     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
Wang2020 T
NFIA     AU4054302chr1:
61991724-61991724
TAintergenicDe novo--Yuen2017 G
NFIA     11-08689chr1:
61872391-61872391
CAexonicMaternal, Unknownnonsynonymous 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
Wang2020 T
Wang2020 T
NFIA     3-0448-000chr1:
61650096-61650097
TGTGGintronicDe novo--Yuen2017 G
NFIA     14370.p1chr1:
61699921-61699921
CTintronicDe novo--Turner2016 G
NFIA     AU3764302chr1:
61943269-61943269
CGintergenicDe novo--Yuen2017 G
NFIA     AU3847302chr1:
61827779-61827779
GTintronicDe novo--Yuen2017 G
NFIA     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
Wang2020 T
NFIA     5-0033-004chr1:
61573076-61573076
TAintronicDe novo--Yuen2017 G
NFIA     11252.p1chr1:
61587930-61587930
CTintronicDe novo--Turner2016 G
NFIA     3-0391-000chr1:
61444952-61444952
CTintergenicDe novo--Yuen2017 G
NFIA     AU076704chr1:
61898123-61898123
CTintronicDe novo--Yuen2017 G
NFIA     AU3847302chr1:
61563060-61563060
ATintronicDe novo--Yuen2017 G
NFIA     13043.p1chr1:
61567399-61567400
ATAintronicDe novo--Wilfert2021 G
NFIA     AU4159301chr1:
61893738-61893738
CTintronicDe novo--Yuen2017 G
NFIA     2-0135-003chr1:
61818513-61818513
ACintronicDe novo--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     2-1466-003chr1:
62066131-62066131
TAintergenicDe novo--Yuen2016 G
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
NFIA     A23chr1:
61809970-61809970
CGintronicDe novo--Wu2018 G
NFIA     AU069603chr1:
61508744-61508744
GAintergenicDe novo--Yuen2017 G
NFIA     AU3905301chr1:
61826865-61826865
CTintronicDe novo--Yuen2017 G
NFIA     AU3907302chr1:
61653987-61653987
AGintronicDe 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     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
Wang2020 T
Wang2020 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     2-0109-003chr1:
61858987-61858987
GCintronicDe novo--Yuen2017 G
NFIA     1-0181-004chr1:
61469422-61469422
GAintergenicDe novo--Yuen2017 G
NFIA     1-0508-003chr1:
61533341-61533341
GTintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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