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Results for "TNFRSF11A"

Variant Events: 13

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
TNFRSF11A     AU011704chr18:
60132110-60132110
TAintergenicDe novo--Yuen2017 G
TNFRSF11A     2-1579-003chr18:
59997342-59997342
AGintronicDe novo--Yuen2017 G
TNFRSF11A     2-0272-003chr18:
60061095-60061095
CTintergenicDe novo--Yuen2017 G
TNFRSF11A     1-0271-003chr18:
60177297-60177297
CTintergenicDe novo--Yuen2017 G
TNFRSF11A     AU4235301chr18:
60072895-60072895
TGintergenicDe novo--Yuen2017 G
TNFRSF11A     AU2248302chr18:
60067667-60067667
CAintergenicDe novo--Yuen2017 G
TNFRSF11A     11615.p1chr18:
60160836-60160836
GGCACintergenicDe novo--Werling2018 G
TNFRSF11A     74-0117chr18:
60132110-60132110
TAintergenicDe novo--Michaelson2012 G
TNFRSF11A     5-0106-003chr18:
60001653-60001653
CTintronicDe novo--Yuen2017 G
TNFRSF11A     1-0629-003chr18:
60163319-60163325
GAACTAAGAACTAACTAAintergenicDe novo--Yuen2017 G
TNFRSF11A     2-0242-003chr18:
60044399-60044399
CTintronicDe novo--Yuen2017 G
TNFRSF11A     AU3809302chr18:
59996690-59996690
CTintronicDe novo--Yuen2017 G
TNFRSF11A     2-0149-003chr18:
60002876-60002876
CTintronicDe 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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