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Results for "FAM160A1"

Variant Events: 16

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
FAM160A1     1-0359-003chr4:
152395849-152395849
TCintronicDe novo--Yuen2017 G
FAM160A1     7-0248-003chr4:
152370210-152370210
TCintronicDe novo--Yuen2017 G
FAM160A1     AU3874301chr4:
152329834-152329834
GAupstreamDe novo--Yuen2017 G
FAM160A1     2-1146-003chr4:
152436090-152436090
TGintronicDe novo--Yuen2017 G
FAM160A1     2-1302-003chr4:
152330855-152330855
CGintronicDe novo--Yuen2017 G
FAM160A1     7-0248-003chr4:
152583715-152583715
GAexonicDe novononsynonymous SNVNM_001109977c.G2932Ap.V978M6.082-Yuen2017 G
Zhou2022 GE
FAM160A1     AU1952305chr4:
152555693-152555693
GTintronicDe novo--Yuen2017 G
FAM160A1     72-0745chr4:
152570812-152570812
CTexonicInheritednonsynonymous SNVNM_001109977c.C1619Tp.T540M2.3292.0E-4Patowary2019 E
FAM160A1     AU2075301chr4:
152508029-152508029
CTintronicDe novo--Yuen2017 G
FAM160A1     AU3713301chr4:
152396587-152396588
CACintronicDe novo--Yuen2017 G
FAM160A1     2-1798-003chr4:
152571715-152571715
CTexonicnonsynonymous SNVNM_001109977c.C2522Tp.P841L11.75-Zhou2022 GE
FAM160A1     3-0322-000chr4:
152571239-152571239
CAexonicsynonymous SNVNM_001109977c.C2046Ap.G682G--Zhou2022 GE
FAM160A1     1-0006-004chr4:
152410356-152410356
CTintronicDe novo--Yuen2017 G
FAM160A1     1-0436-003chr4:
152349806-152349806
TAintronicDe novo--Yuen2016 G
Yuen2017 G
FAM160A1     AU018010chr4:
152370080-152370080
GAintronicDe novo--Yuen2017 G
FAM160A1     14496.p1chr4:
152549332-152549332
GAintronicDe novo--Turner2016 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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