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Results for "NFASC"

Variant Events: 17

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
NFASC     2-0303-004chr1:
204888850-204888850
GAintronicDe novo--Yuen2017 G
NFASC     AU046904chr1:
204933726-204933726
GAintronicDe novo--Yuen2017 G
NFASC     2-0320-003chr1:
204840739-204840739
AGintronicDe novo--Yuen2017 G
NFASC     1-0436-003chr1:
204912388-204912388
CGintronicDe novo--Yuen2016 G
Yuen2017 G
NFASC     1-0901-003chr1:
204876695-204876695
GAintronicDe novo--Yuen2017 G
NFASC     2-0158-003chr1:
204986187-204986187
GAUTR3De novo--Yuen2017 G
NFASC     AU021204chr1:
204985266-204985266
GAintronicDe novo--Yuen2017 G
NFASC     12687.p1chr1:
204946815-204946815
AGexonicDe novononsynonymous SNVNM_001160331
NM_001005388
c.A1871G
c.A1838G
p.Q624R
p.Q613R
12.72-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
NFASC     1-0524-003chr1:
204801031-204801031
TCintronicDe novo--Yuen2016 G
Yuen2017 G
NFASC     13298.p1chr1:
204852436-204852436
TAintronicDe novo--Turner2016 G
NFASC     13298.p1chr1:
204852438-204852438
CGintronicDe novo--Turner2016 G
NFASC     1-0092-003chr1:
204802344-204802344
TGintronicDe novo--Yuen2017 G
NFASC     09C87225chr1:
204978698-204978698
CTexonicDe novosynonymous SNVNM_001160331
NM_015090
NM_001160332
NM_001005388
c.C3150T
c.C3090T
c.C3105T
c.C3303T
p.N1050N
p.N1030N
p.N1035N
p.N1101N
9.507-DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
NFASC     1-0191-004chr1:
204837803-204837803
GAintronicDe novo--Yuen2017 G
NFASC     1339JS0045chr1:
204978698-204978698
CTexonicDe novosynonymous SNVNM_001160331
NM_015090
NM_001160332
NM_001005388
c.C3150T
c.C3090T
c.C3105T
c.C3303T
p.N1050N
p.N1030N
p.N1035N
p.N1101N
9.507-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
NFASC     1-0113-003chr1:
204955245-204955245
ATintronicDe novo--Yuen2016 G
NFASC     AU2433302chr1:
204886941-204886941
TAintronicDe 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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