Variant Results

or

or

Results for "FAM184B"

Variant Events: 23

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

FAM184B

AU3724302

chr4:
17708462-17708462

G

A

intronic

De novo

-

-

Yuen2017 G

FAM184B

SP0045112

chr4:
17706759-17706759

T

C

exonic

De novo

nonsynonymous SNV

NM_015688

c.A1241G

p.K414R

14.32

-

Fu2022 E
Zhou2022 GE

FAM184B

AU3605303

chr4:
17702210-17702210

G

A

intronic

De novo

-

-

Yuen2017 G

FAM184B

74-0752

chr4:
17782809-17782809

C

T

exonic

Inherited

nonsynonymous SNV

NM_015688

c.G114A

p.M38I

18.33

-

Patowary2019 E

FAM184B

7-0008-003

chr4:
17766122-17766122

T

C

intronic

De novo

-

-

Yuen2017 G

FAM184B

AU2248301

chr4:
17710805-17710805

G

A

exonic

De novo

nonsynonymous SNV

NM_015688

c.C604T

p.R202W

11.76

-

Cirnigliaro2023 G
Zhou2022 GE

FAM184B

2-1153-003

chr4:
17762475-17762475

G

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

FAM184B

AU3997301

chr4:
17670179-17670179

G

A

intronic

De novo

-

-

Yuen2017 G

FAM184B

SP0059198

chr4:
17649477-17649477

G

T

intronic

De novo

-

-

Fu2022 E

FAM184B

SP0079628

chr4:
17641042-17641042

C

T

intronic

De novo

-

-

Fu2022 E

FAM184B

AU2139305

chr4:
17793124-17793124

G

A

intergenic

De novo

-

-

Yuen2017 G

FAM184B

iHART1571

chr4:
17634167-17634167

G

C

exonic

Paternal

stopgain

NM_015688

c.C3171G

p.Y1057X

43.0

-

Ruzzo2019 G

FAM184B

13252.p1

Complex Event; expand row to view variants

Mosaic, De novo

nonsynonymous SNV

NM_015688
NM_015688

c.C1196A
c.C1196T

p.T399K
p.T399I

12.14

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

FAM184B

Lim2017:68744

chr4:
17706804-17706804

G

T

exonic

De novo

nonsynonymous SNV

NM_015688

c.C1196A

p.T399K

3.237

-

Lim2017 E

FAM184B

AU1894304

chr4:
17645535-17645535

A

G

intronic

De novo

-

-

Yuen2017 G

FAM184B

iHART1573

chr4:
17634167-17634167

G

C

exonic

Paternal

stopgain

NM_015688

c.C3171G

p.Y1057X

43.0

-

Ruzzo2019 G

FAM184B

2-1251-003

chr4:
17750208-17750208

C

T

intronic

De novo

-

-

Yuen2017 G

FAM184B

mAGRE5842

chr4:
17709270-17709270

A

C

splicing

Paternal

splicing

18.03

-

Cirnigliaro2023 G

FAM184B

mAGRE5841

chr4:
17709270-17709270

A

C

splicing

Paternal

splicing

18.03

-

Cirnigliaro2023 G

FAM184B

mAGRE1573

chr4:
17634167-17634167

G

C

exonic

Paternal

stopgain

NM_015688

c.C3171G

p.Y1057X

43.0

-

Cirnigliaro2023 G

FAM184B

68744

chr4:
17706804-17706804

G

T

exonic

De novo

nonsynonymous SNV

NM_015688

c.C1196A

p.T399K

3.237

-

Fu2022 E
Trost2022 G

FAM184B

mAGRE1571

chr4:
17634167-17634167

G

C

exonic

Paternal

stopgain

NM_015688

c.C3171G

p.Y1057X

43.0

-

Cirnigliaro2023 G

FAM184B

Cukier2014:17545

chr4:
17690072-17690072

T

C

exonic

Unknown

nonsynonymous SNV

NM_015688

c.A1571G

p.Q524R

6.018

Cukier2014 E

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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