Variant Results

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Results for "FAM161B"

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

FAM161B

iHART1532

chr14:
74401014-74401014

T

TA

exonic

Paternal

frameshift insertion

NM_152445

c.2077_2078insT

p.K693fs

-

Ruzzo2019 G

FAM161B

iHART1531

chr14:
74401014-74401014

T

TA

exonic

Paternal

frameshift insertion

NM_152445

c.2077_2078insT

p.K693fs

-

Ruzzo2019 G

FAM161B

mAGRE5862

chr14:
74413149-74413149

G

GTA

exonic

Paternal

frameshift insertion

NM_152445

c.402_403insTA

p.Q135fs

-

-

Cirnigliaro2023 G

FAM161B

mAGRE4362

chr14:
74402705-74402706

AC

A

exonic

Maternal

frameshift deletion

NM_152445

c.1940delG

p.G647fs

-

-

Cirnigliaro2023 G

FAM161B

mAGRE4852

chr14:
74402673-74402675

GTC

G

exonic

Maternal

frameshift deletion

NM_152445

c.1971_1972del

p.E657fs

-

-

Cirnigliaro2023 G

FAM161B

mAGRE1532

chr14:
74401014-74401014

T

TA

exonic

Paternal

frameshift insertion

NM_152445

c.2077_2078insT

p.K693fs

-

Cirnigliaro2023 G

FAM161B

mAGRE1531

chr14:
74401014-74401014

T

TA

exonic

Paternal

frameshift insertion

NM_152445

c.2077_2078insT

p.K693fs

-

Cirnigliaro2023 G

FAM161B

14080.p1

chr14:
74411503-74411503

G

A

exonic

De novo

nonsynonymous SNV

NM_152445

c.C649T

p.R217W

16.88

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

FAM161B

14080_p1

chr14:
74411503-74411503

G

A

exonic

De novo

nonsynonymous SNV

NM_152445

c.C649T

p.R217W

16.88

Fu2022 E

FAM161B

MSSNG00247-003

chr14:
74413148-74413148

T

C

exonic

De novo

nonsynonymous SNV

NM_152445

c.A404G

p.Q135R

11.26

-

Trost2022 G
Zhou2022 GE

FAM161B

CA134A2

chr14:
74409110-74409110

G

A

exonic

De novo

stopgain

NM_152445

c.C1423T

p.Q475X

37.0

-

Fu2022 E

FAM161B

SP0065631

chr14:
74413201-74413201

C

T

exonic

De novo

synonymous SNV

NM_152445

c.G351A

p.E117E

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

Source Variant Information

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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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