Variant Results

or

or

Results for "TNFRSF13B"

Variant Events: 17

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

AU070007

chr17:
16901163-16901163

A

G

intergenic

De novo

-

-

Yuen2017 G

TNFRSF13B

MSSNG00250-003

chr17:
16873024-16873024

G

C

intronic

De novo

-

-

Trost2022 G

TNFRSF13B

3-0107-001

chr17:
16873419-16873421

TGT

CGC

intronic

De novo

-

-

Trost2022 G

TNFRSF13B

AU066818

chr17:
16874048-16874048

T

A

intronic

De novo

-

-

Yuen2017 G

TNFRSF13B

iHART2783

chr17:
16852292-16852292

G

GT

exonic

Maternal

frameshift insertion

NM_012452

c.204dupA

p.L69fs

-

Ruzzo2019 G

TNFRSF13B

AU3861301

chr17:
16883215-16883215

G

A

intergenic

De novo

-

-

Yuen2017 G

TNFRSF13B

2-1434-003

chr17:
16851212-16851212

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TNFRSF13B

iHART3292

chr17:
16855882-16855882

C

T

exonic

Paternal

stopgain

NM_012452

c.G77A

p.W26X

8.436

-

Ruzzo2019 G

TNFRSF13B

AU4093304

chr17:
16855882-16855882

C

T

exonic

Paternal

stopgain

NM_012452

c.G77A

p.W26X

8.436

-

Cirnigliaro2023 G

TNFRSF13B

mAGRE4464

chr17:
16852292-16852292

G

GT

exonic

Maternal

frameshift insertion

NM_012452

c.204dupA

p.L69fs

-

Cirnigliaro2023 G

TNFRSF13B

mAGRE2783

chr17:
16852292-16852292

G

GT

exonic

Maternal

frameshift insertion

NM_012452

c.204dupA

p.L69fs

-

Cirnigliaro2023 G

TNFRSF13B

2-1619-003

chr17:
16934796-16934796

T

G

intergenic

De novo

-

-

Yuen2017 G

TNFRSF13B

AU2525302

chr17:
16934382-16934382

C

A

intergenic

De novo

-

-

Yuen2017 G

TNFRSF13B

SP0009381

chr17:
16843667-16843667

G

A

exonic

De novo

nonsynonymous SNV

NM_012452

c.C604T

p.R202C

4.983

Fu2022 E
Trost2022 G
Zhou2022 GE

TNFRSF13B

AU3787302

chr17:
16847829-16847829

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TNFRSF13B

AU072004

chr17:
16882905-16882905

C

T

intergenic

De novo

-

-

Yuen2017 G

TNFRSF13B

Torti2019:24

chr17:
16843729-16843729

G

T

exonic

Unknown

nonsynonymous SNV

NM_012452

c.C542A

p.A181E

2.234

Torti2019 T

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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