Variant Results

or

or

Results for "FAM173B"

Variant Events: 12

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

FAM173B

1-0498-003

chr5:
10228880-10228880

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FAM173B

iHART3050

chr5:
10239295-10239295

G

A

exonic

Maternal

stopgain

NM_001258388
NM_001258389
NM_199133

c.C190T
c.C190T
c.C190T

p.R64X
p.R64X
p.R64X

19.17

Ruzzo2019 G

FAM173B

SP0116687

chr5:
10249921-10249921

G

C

intronic

De novo

-

-

Trost2022 G
Trost2022 G

FAM173B

AU3051302

chr5:
10239295-10239295

G

A

exonic

Maternal

stopgain

NM_001258388
NM_001258389
NM_199133

c.C190T
c.C190T
c.C190T

p.R64X
p.R64X
p.R64X

19.17

Cirnigliaro2023 G

FAM173B

SP0008087

chr5:
10249923-10249923

A

C

intronic

De novo

-

Trost2022 G
Trost2022 G

FAM173B

mAGRE6014

chr5:
10236640-10236640

G

A

exonic

Maternal

stopgain

NM_001258388
NM_001258389
NM_199133

c.C394T
c.C394T
c.C394T

p.R132X
p.R132X
p.R132X

26.5

Cirnigliaro2023 G

FAM173B

mAGRE4948

chr5:
10236608-10236608

A

T

exonic

Paternal

stopgain

NM_001258388
NM_199133

c.T426A
c.T426A

p.Y142X
p.Y142X

18.77

Cirnigliaro2023 G

FAM173B

SP0012602

chr5:
10249921-10249921

G

C

intronic

De novo

-

-

Trost2022 G
Trost2022 G

FAM173B

111297

chr5:
10235368-10235368

A

C

exonic

nonsynonymous SNV

NM_001258389

c.T406G

p.F136V

-

-

Woodbury-Smith2022 E

FAM173B

Cukier2014:7936

chr5:
10236693-10236693

A

G

exonic

Unknown

nonsynonymous SNV

NM_001258388
NM_001258389
NM_199133

c.T341C
c.T341C
c.T341C

p.V114A
p.V114A
p.V114A

10.55

Cukier2014 E

FAM173B

11257.p1

chr5:
10239310-10239310

C

T

exonic

Mosaic

nonsynonymous SNV

NM_001258388
NM_001258389
NM_199133

c.G175A
c.G175A
c.G175A

p.V59I
p.V59I
p.V59I

1.493

-

Dou2017 E

FAM173B

IGM4061

chr5:
10239432-10239432

G

A

exonic

De novo

nonsynonymous SNV

NM_001258388
NM_001258389
NM_199133

c.C53T
c.C53T
c.C53T

p.S18L
p.S18L
p.S18L

6.097

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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