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Results for "FAM171B"

Variant Events: 11

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
FAM171B     1-0405-003chr2:
187598659-187598659
TCintronicDe novo--Yuen2017 G
FAM171B     7-0168-003chr2:
187673936-187673936
GCintergenicDe novo--Yuen2017 G
FAM171B     AU071204chr2:
187690203-187690203
ATintergenicDe novo--Yuen2017 G
FAM171B     AU3398301chr2:
187613034-187613039
TTTCTTTTTintronicDe novo--Yuen2017 G
FAM171B     MT_160chr2:
187604958-187604958
CGexonicMaternalnonsynonymous SNVNM_177454c.C242Gp.S81C24.2-Toma2013 E
FAM171B     AU4028302chr2:
187617237-187617237
CTintronicDe novo--Yuen2017 G
FAM171B     11437.p1chr2:
187626960-187626960
GTexonicMosaicnonsynonymous SNVNM_177454c.G1891Tp.V631F19.74-Dou2017 E
FAM171B     7-0253-003chr2:
187594159-187594160
GTGTTintronicDe novo--Yuen2017 G
FAM171B     AU3809302chr2:
187672686-187672686
GAintergenicDe novo--Yuen2017 G
FAM171B     12738.p1chr2:
187558260-187558260
TCupstreamDe novo--Werling2018 G
FAM171B     7-0192-003chr2:
187647664-187647664
GTintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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