Variant Results

or

Results for "TNFRSF11A"

Variant Events: 15

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

AU011704

chr18:
60132110-60132110

T

A

intergenic

De novo

-

Yuen2017 G

TNFRSF11A

11350_p1

chr18:
60021726-60021726

G

T

exonic

De novo

nonsynonymous SNV

NM_001270949
NM_001270950
NM_001270951
NM_001278268
NM_003839

c.G386T
c.G386T
c.G386T
c.G386T
c.G386T

p.R129L
p.R129L
p.R129L
p.R129L
p.R129L

22.3

-

Fu2022 E

TNFRSF11A

2-1579-003

chr18:
59997342-59997342

A

G

intronic

De novo

-

Yuen2017 G

TNFRSF11A

2-0272-003

chr18:
60061095-60061095

C

T

intergenic

De novo

-

Yuen2017 G

TNFRSF11A

1-0271-003

chr18:
60177297-60177297

C

T

intergenic

De novo

-

Yuen2017 G

TNFRSF11A

AU4235301

chr18:
60072895-60072895

T

G

intergenic

De novo

-

Yuen2017 G

TNFRSF11A

AU2248302

chr18:
60067667-60067667

C

A

intergenic

De novo

-

Yuen2017 G

TNFRSF11A

SP0034666

chr18:
60052273-60052273

C

T

UTR3

De novo

-

Fu2022 E

TNFRSF11A

11615.p1

chr18:
60160836-60160836

G

GCAC

intergenic

De novo

-

Werling2018 G

TNFRSF11A

74-0117

chr18:
60132110-60132110

T

A

intergenic

De novo

-

Michaelson2012 G

TNFRSF11A

5-0106-003

chr18:
60001653-60001653

C

T

intronic

De novo

-

Yuen2017 G

TNFRSF11A

1-0629-003

chr18:
60163319-60163325

GAACTAA

GAACTAACTAA

intergenic

De novo

-

Yuen2017 G

TNFRSF11A

2-0242-003

chr18:
60044399-60044399

C

T

intronic

De novo

-

Yuen2017 G

TNFRSF11A

AU3809302

chr18:
59996690-59996690

C

T

intronic

De novo

-

Yuen2017 G

TNFRSF11A

2-0149-003

chr18:
60002876-60002876

C

T

intronic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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