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Results for "NSFL1C"

Variant Events: 9

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
NSFL1C     AU003406chr20:
1380789-1380789
TAintergenicDe novo--Yuen2017 G
NSFL1C     111292chr20:
1447400-1447400
GAexonicnonsynonymous SNVNM_016143
NM_018839
c.C70T
c.C70T
p.R24C
p.R24C
26.35.0E-4Woodbury-Smith2022 E
NSFL1C     1-1172-003chr20:
1448589-1448589
ACupstreamDe novo--Trost2022 G
NSFL1C     4-0062-003chr20:
1434932-1434932
ACexonicDe novononsynonymous SNVNM_016143c.T463Gp.Y155D23.4-Trost2022 G
NSFL1C     SP0082297chr20:
1447465-1447465
GAexonicDe novononsynonymous SNVNM_016143
NM_018839
c.C5T
c.C5T
p.A2V
p.A2V
36.0-Fu2022 E
Trost2022 G
Zhou2022 GE
NSFL1C     PN400322chr20:
1433259-1433259
GAexonicUnknownnonsynonymous SNVNM_018839
NM_016143
c.C571T
c.C664T
p.L191F
p.L222F
25.00.0037Leblond2019 E
NSFL1C     AU3779304chr20:
1426898-1426898
GCintronicDe novo--Yuen2017 G
NSFL1C     AU2777302chr20:
1379622-1379622
GAintergenicDe novo--Yuen2017 G
NSFL1C     2-1277-004chr20:
1386907-1386907
TAintergenicDe novo--Yuen2017 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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