Variant Results

or

Results for "FAM168B"

Variant Events: 15

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

FAM168B

1-0403-004

chr2:
131827713-131827713

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAM168B

7-0059-003

chr2:
131818749-131818749

C

T

intronic

De novo

-

Yuen2017 G

FAM168B

mAGRE1576

chr2:
131813125-131813125

C

T

splicing

Maternal

splicing

22.5

-

Cirnigliaro2023 G

FAM168B

14537.p1

chr2:
131810589-131810589

C

G

splicing

De novo

splicing

26.6

-

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

FAM168B

2-0122-004

chr2:
131832589-131832589

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAM168B

REACH000194

chr2:
131840744-131840744

T

C

intronic

De novo

-

Trost2022 G

FAM168B

AU060004

chr2:
131848843-131848843

A

C

intronic

De novo

-

Trost2022 G

FAM168B

SP0152433

chr2:
131812980-131812980

G

A

exonic

De novo

nonsynonymous SNV

NM_001009993

c.C340T

p.H114Y

25.8

-

Trost2022 G

FAM168B

36814

chr2:
131810589-131810589

C

G

splicing

De novo

splicing

26.6

-

Fu2022 E
Trost2022 G

FAM168B

MSSNG00027-003

chr2:
131823155-131823155

G

A

intronic

De novo

-

Trost2022 G

FAM168B

1-0142-005

chr2:
131842122-131842122

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAM168B

SP0197637

chr2:
131806940-131806940

G

T

UTR3

De novo

-

Trost2022 G

FAM168B

Lim2017:36814

chr2:
131810589-131810589

C

G

splicing

De novo

splicing

26.6

-

Lim2017 E

FAM168B

1-0144-004

chr2:
131844376-131844376

C

T

intronic

De novo

-

Yuen2017 G

FAM168B

4-0022-003

chr2:
131849327-131849327

C

T

intronic

De novo

-

Trost2022 G

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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