Variant Results

or

Results for "FLVCR1"

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

FLVCR1

AU3728301

chr1:
213083347-213083347

C

A

intergenic

De novo

-

Yuen2017 G

FLVCR1

1-0294-003

chr1:
213066213-213066213

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FLVCR1

AU3807302

chr1:
213042314-213042314

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FLVCR1

2-1735-003

chr1:
213118921-213118921

C

T

intergenic

De novo

-

Yuen2017 G

FLVCR1

1-0304-003

chr1:
213070184-213070197

ACCCCATCTCTACT

A

UTR3

De novo

-

Yuen2016 G

FLVCR1

1-0435-003

chr1:
213112996-213112996

C

T

intergenic

De novo

-

Yuen2017 G

FLVCR1

SMHC01432s000

chr1:
213056746-213056746

C

T

exonic

De novo

nonsynonymous SNV

NM_014053

c.C1058T

p.T353M

24.0

2.129E-5

Yuan2023 E

FLVCR1

2-0242-005

chr1:
213050870-213050870

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FLVCR1

DEASD_0118_001

chr1:
213061871-213061871

G

A

exonic

De novo

nonsynonymous SNV

NM_014053

c.G1348A

p.A450T

35.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FLVCR1

MSSNG00254-003

chr1:
213036338-213036338

A

G

intronic

De novo

-

Trost2022 G

FLVCR1

MSSNG00039-004

chr1:
213032718-213032718

A

G

intronic

De novo

-

Trost2022 G

FLVCR1

AU2687301

chr1:
213059599-213059599

G

A

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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