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Results for "FDFT1"

Variant Events: 13

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
FDFT1     2-0018-004chr8:
11657493-11657493
CTintronicDe novo--Yuen2017 G
FDFT1     2-1409-003chr8:
11679054-11679054
CTintronicDe novo--Yuen2016 G
Yuen2017 G
FDFT1     13023.p1chr8:
11665062-11665062
TCintronicDe novo--Turner2016 G
FDFT1     11604.p1chr8:
11683617-11683617
GAexonicDe novononsynonymous SNVNM_001287756
NM_001287750
NM_001287751
NM_001287744
NM_001287747
NM_001287748
NM_001287749
NM_004462
NM_001287743
NM_001287745
NM_001287742
c.G94A
c.G772A
c.G340A
c.G403A
c.G403A
c.G403A
c.G403A
c.G595A
c.G595A
c.G403A
c.G595A
p.E32K
p.E258K
p.E114K
p.E135K
p.E135K
p.E135K
p.E135K
p.E199K
p.E199K
p.E135K
p.E199K
9.523-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
FDFT1     2-1562-004chr8:
11673515-11673515
ACintronicDe novo--Yuen2017 G
FDFT1     SP0009268chr8:
11683646-11683646
CTexonicDe novosynonymous SNVNM_001287756
NM_001287750
NM_001287751
NM_001287744
NM_001287747
NM_001287748
NM_001287749
NM_004462
NM_001287743
NM_001287745
NM_001287742
c.C123T
c.C801T
c.C369T
c.C432T
c.C432T
c.C432T
c.C432T
c.C624T
c.C624T
c.C432T
c.C624T
p.G41G
p.G267G
p.G123G
p.G144G
p.G144G
p.G144G
p.G144G
p.G208G
p.G208G
p.G144G
p.G208G
--Feliciano2019 E
FDFT1     AU2140306chr8:
11686382-11686382
CGintronicDe novo--Yuen2017 G
FDFT1     1-0339-003chr8:
11696798-11696811
TTGCTCTGCATTTGTUTR3De novo--Yuen2017 G
FDFT1     AU031003chr8:
11693720-11693720
CTintronicDe novo--Yuen2017 G
FDFT1     1-0352-005chr8:
11668913-11668913
ATintronicDe novo--Yuen2017 G
FDFT1     1-0352-003chr8:
11668913-11668913
ATintronicDe novo--Yuen2016 G
FDFT1     1-0214-003chr8:
11689674-11689674
TAintronicDe novo--Yuen2017 G
FDFT1     2-1486-003chr8:
11681226-11681226
GAintronicDe 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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