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Results for "CFAP54"

Variant Events: 20

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
CFAP54     1-0706-003chr12:
97055347-97055347
GAintronicDe novo--Yuen2017 G
CFAP54     AU2569303chr12:
96951884-96951884
TCintronicDe novo--Yuen2017 G
CFAP54     1-0395-003chr12:
97194715-97194715
AGintronicDe novo--Yuen2017 G
CFAP54     1-0559-003chr12:
97128074-97128074
TCintronicDe novo--Yuen2017 G
CFAP54     AU3302302chr12:
97248363-97248363
AGintronicDe novo--Yuen2017 G
CFAP54     2-1725-003chr12:
97205572-97205572
CAexonicDe novononsynonymous SNVNM_001306084c.C8909Ap.S2970Y12.98-Yuen2017 G
CFAP54     1-0007-003chr12:
96929365-96929365
GAexonicDe novononsynonymous SNVNM_001306084c.G1778Ap.C593Y5.731-Yuen2017 G
CFAP54     2-1142-003chr12:
97277413-97277413
ATintergenicDe novo--Yuen2017 G
CFAP54     1-0755-003chr12:
97202394-97202394
TCintronicDe novo--Yuen2017 G
CFAP54     2-1205-003chr12:
97192274-97192274
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CFAP54     AU4067301chr12:
96960260-96960260
GAintronicDe novo--Yuen2017 G
CFAP54     AU1404301chr12:
97221391-97221391
AGintronicDe novo--Yuen2017 G
CFAP54     AU4215302chr12:
96933911-96933911
CTintronicDe novo--Yuen2017 G
CFAP54     1-0191-003chr12:
96991433-96991433
TTACintronicDe novo--Yuen2017 G
CFAP54     2-1348-003chr12:
96932258-96932258
GTexonicDe novononsynonymous SNVNM_001306084c.G1888Tp.D630Y12.23-Yuen2017 G
CFAP54     A28chr12:
96957694-96957694
CTintronicDe novo--Wu2018 G
CFAP54     AU030804chr12:
97055129-97055129
TCintronicDe novo--Yuen2017 G
CFAP54     14544.p1chr12:
96915953-96915954
AGAexonicDe novoframeshift deletionNM_001306084c.1145delGp.R382fs--Wilfert2021 G
CFAP54     AU3907302chr12:
97012063-97012063
CTintronicDe novo--Yuen2017 G
CFAP54     1-0395-004chr12:
97194715-97194715
AGintronicDe 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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