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Results for "FAM189B"

Variant Events: 3

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
FAM189B     5-0004-003chr1:
155222738-155222738
GAintronicDe novo--Yuen2017 G
FAM189B     PN400317chr1:
155217661-155217661
CTexonicUnknownnonsynonymous SNVNM_198264
NM_001267608
NM_006589
c.G1631A
c.G1865A
c.G1919A
p.R544Q
p.R622Q
p.R640Q
24.14.87E-5Leblond2019 E
FAM189B     AU01303chr1:
155217658-155217658
CTexonicDe novononsynonymous SNVNM_198264
NM_001267608
NM_006589
c.G1634A
c.G1868A
c.G1922A
p.R545H
p.R623H
p.R641H
21.01.0E-4Lim2017 E
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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