Variant Results

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Results for "FLVCR2"

Variant Events: 13

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

FLVCR2

2-0126-004

chr14:
76047452-76047452

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FLVCR2

AU3777301

chr14:
76100028-76100029

TG

T

exonic

Paternal

frameshift deletion

NM_001195283
NM_017791

c.395delG
c.1010delG

p.W132fs
p.W337fs

-

Cirnigliaro2023 G

FLVCR2

AU4237301

chr14:
76102183-76102183

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FLVCR2

AU3302302

chr14:
76081608-76081608

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FLVCR2

SP0102714

chr14:
76105735-76105735

A

T

exonic

De novo

nonsynonymous SNV

NM_001195283
NM_017791

c.A550T
c.A1165T

p.M184L
p.M389L

18.59

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FLVCR2

1-0160-004

chr14:
76067808-76067808

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FLVCR2

AU2075301

chr14:
76086274-76086274

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FLVCR2

SP0036335

chr14:
76101299-76101299

C

T

exonic

De novo

nonsynonymous SNV

NM_001195283
NM_017791

c.C452T
c.C1067T

p.A151V
p.A356V

35.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FLVCR2

7-0347-003

chr14:
76047388-76047388

G

C

intronic

De novo

-

-

Trost2022 G

FLVCR2

iHART3183

chr14:
76100028-76100029

TG

T

exonic

Paternal

frameshift deletion

NM_001195283
NM_017791

c.395delG
c.1010delG

p.W132fs
p.W337fs

-

Ruzzo2019 G

FLVCR2

14037.p1

chr14:
76045663-76045663

C

T

exonic

Mosaic

synonymous SNV

NM_017791

c.C348T

p.Y116Y

-

-

Dou2017 E
Krupp2017 E

FLVCR2

AU005214

chr14:
76054779-76054779

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FLVCR2

REACH000689

chr14:
76055540-76055544

CAGAG

C

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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