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Results for "TNFRSF13B"

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
TNFRSF13B     AU070007chr17:
16901163-16901163
AGintergenicDe novo--Yuen2017 G
TNFRSF13B     AU066818chr17:
16874048-16874048
TAintronicDe novo--Yuen2017 G
TNFRSF13B     iHART2783chr17:
16852292-16852292
GGTexonicMaternalframeshift insertionNM_012452c.204dupAp.L69fs-4.0E-4Ruzzo2019 G
TNFRSF13B     AU3861301chr17:
16883215-16883215
GAintergenicDe novo--Yuen2017 G
TNFRSF13B     2-1434-003chr17:
16851212-16851212
GAintronicDe novo--Yuen2016 G
Yuen2017 G
TNFRSF13B     AU3787302chr17:
16847829-16847829
CTintronicDe novo--Yuen2017 G
TNFRSF13B     iHART3292chr17:
16855882-16855882
CTexonicPaternalstopgainNM_012452c.G77Ap.W26X8.436-Ruzzo2019 G
TNFRSF13B     AU072004chr17:
16882905-16882905
CTintergenicDe novo--Yuen2017 G
TNFRSF13B     2-1619-003chr17:
16934796-16934796
TGintergenicDe novo--Yuen2017 G
TNFRSF13B     AU2525302chr17:
16934382-16934382
CAintergenicDe novo--Yuen2017 G
TNFRSF13B     Torti2019:24chr17:
16843729-16843729
GTexonicUnknownnonsynonymous SNVNM_012452c.C542Ap.A181E2.2340.0054Torti2019 T
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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