Variant Results

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Results for "FAM149B1"

Variant Events: 11

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

FAM149B1

111317

chr10:
74992768-74992768

G

A

exonic

nonsynonymous SNV

NM_173348

c.G1199A

p.R400Q

33.0

Woodbury-Smith2022 E

FAM149B1

AU028305

chr10:
74961909-74961909

C

T

intronic

De novo

-

-

Yuen2017 G

FAM149B1

08C75910

chr10:
74992952-74992952

C

T

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

FAM149B1

iHART2168

chr10:
74968403-74968403

A

AT

exonic

Maternal

frameshift insertion

NM_173348

c.570dupT

p.H190fs

-

-

Ruzzo2019 G

FAM149B1

mAGRE2168

chr10:
74968403-74968403

A

AT

exonic

Maternal

frameshift insertion

NM_173348

c.570dupT

p.H190fs

-

-

Cirnigliaro2023 G

FAM149B1

mAGRE2949

chr10:
74953233-74953233

A

G

splicing

Maternal

splicing

17.98

-

Cirnigliaro2023 G

FAM149B1

iHART2949

chr10:
74953233-74953233

A

G

splicing

Maternal

splicing

17.98

-

Ruzzo2019 G

FAM149B1

SP0076718

chr10:
74928210-74928210

C

CAGT

intronic

De novo

-

-

Fu2022 E

FAM149B1

mAGRE2948

chr10:
74953233-74953233

A

G

splicing

Maternal

splicing

17.98

-

Cirnigliaro2023 G

FAM149B1

iHART2948

chr10:
74953233-74953233

A

G

splicing

Maternal

splicing

17.98

-

Ruzzo2019 G

FAM149B1

SP0111234

chr10:
74990272-74990272

G

C

exonic

nonsynonymous SNV

NM_173348

c.G1116C

p.M372I

18.0

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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