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Results for "FAM160B1"

Variant Events: 6

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
FAM160B1     JASD_Fam0122chr10:
116620601-116620601
GAexonicDe novononsynonymous SNVNM_001135051
NM_020940
c.G2041A
c.G2041A
p.V681M
p.V681M
17.64-Takata2018 E
FAM160B1     Chen2017:36chr10:
116621094-116621094
GAsplicingDe novosplicing13.9-Chen2017 E
FAM160B1     AU003405chr10:
116595770-116595770
GTintronicDe novo--Yuen2017 G
FAM160B1     AU4072303chr10:
116606543-116606543
TCintronicDe novo--Yuen2017 G
FAM160B1     12481.p1chr10:
116595301-116595301
TAexonicDe novosynonymous SNVNM_001135051
NM_020940
c.T300A
c.T300A
p.P100P
p.P100P
--Satterstrom2020 E
FAM160B1     AU0540301chr10:
116683897-116683897
TCintergenicDe 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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