Variant Results

or

Results for "FAM92B"

Variant Events: 13

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

FAM92B

13538.p1

chr16:
85143904-85143904

G

A

exonic

De novo

synonymous SNV

NM_198491

c.C183T

p.N61N

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

FAM92B

2-1283-003

chr16:
85149919-85149919

C

T

intergenic

De novo

-

Yuen2017 G

FAM92B

14198.p1

chr16:
85143987-85143987

C

T

exonic

De novo

nonsynonymous SNV

NM_198491

c.G100A

p.A34T

21.0

1.657E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

FAM92B

JASD_Fam0020

chr16:
85133773-85133773

G

A

exonic

De novo

nonsynonymous SNV

NM_198491

c.C725T

p.P242L

9.962

-

Takata2018 E

FAM92B

13796.p1

chr16:
85143894-85143894

G

A

exonic

De novo

nonsynonymous SNV

NM_198491

c.C193T

p.R65W

15.68

-

Ji2016 E
Krumm2015 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

FAM92B

1-0173-004

chr16:
85149940-85149940

T

G

intergenic

De novo

-

Yuen2017 G

FAM92B

14198_p1

chr16:
85143987-85143987

C

T

exonic

De novo

nonsynonymous SNV

NM_198491

c.G100A

p.A34T

21.0

1.657E-5

Fu2022 E

FAM92B

1-0455-004

chr16:
85149838-85149838

T

TTTGTATTTA

intergenic

De novo

-

Yuen2017 G

FAM92B

PN400477

chr16:
85141478-85141479

TC

T

exonic

Unknown

frameshift deletion

NM_198491

c.399delG

p.Q133fs

-

8.238E-6

Leblond2019 E

FAM92B

SSC07986

chr16:
85143904-85143904

G

A

exonic

De novo

synonymous SNV

NM_198491

c.C183T

p.N61N

-

Fu2022 E
Trost2022 G

FAM92B

2-1174-005B

chr16:
85149919-85149919

C

T

intergenic

De novo

-

Yuen2017 G

FAM92B

AU4211304

chr16:
85158382-85158382

G

A

intergenic

De novo

-

Yuen2017 G

FAM92B

PN400178

chr16:
85141478-85141479

TC

T

exonic

Unknown

frameshift deletion

NM_198491

c.399delG

p.Q133fs

-

8.238E-6

Leblond2019 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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