Variant Results

or

or

Results for "FAM180A"

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

FAM180A

5-0131-003

chr7:
135439685-135439685

A

G

intergenic

De novo

-

-

Yuen2017 G

FAM180A

SP0003819

chr7:
135418380-135418380

C

T

intronic

De novo

-

-

Fu2022 E

FAM180A

2-0318-004

chr7:
135493994-135493994

C

G

intergenic

De novo

-

-

Yuen2017 G

FAM180A

AU4060306

chr7:
135578957-135578963

AAATCAA

AAA

intergenic

De novo

-

-

Yuen2017 G

FAM180A

A2

chr7:
135415660-135415660

T

G

intronic

De novo

-

-

Wu2018 G

FAM180A

13649.p1

chr7:
135429936-135429936

C

A

intronic

De novo

-

-

Turner2016 G

FAM180A

AU0540302

chr7:
135422722-135422722

C

T

intronic

De novo

-

-

Trost2022 G

FAM180A

mAGRE1448

chr7:
135418797-135418797

G

A

exonic

Paternal

stopgain

NM_205855

c.C448T

p.Q150X

36.0

Cirnigliaro2023 G

FAM180A

1-0677-003

chr7:
135470787-135470787

G

A

intergenic

De novo

-

-

Yuen2017 G

FAM180A

iHART1448

chr7:
135418797-135418797

G

A

exonic

Paternal

stopgain

NM_205855

c.C448T

p.Q150X

36.0

Ruzzo2019 G

FAM180A

2-0197-004

chr7:
135425764-135425765

AG

CGT

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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