Variant Results

or

or

Results for "FBLIM1"

Variant Events: 17

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

FBLIM1

7-0224-003

chr1:
16096193-16096193

G

A

intronic

De novo

-

-

Trost2022 G

FBLIM1

SP0048064

chr1:
16095164-16095164

A

C

intronic

De novo

-

Trost2022 G

FBLIM1

AU3779304

chr1:
16099702-16099702

A

G

intronic

De novo

-

-

Trost2022 G

FBLIM1

7-0105-003

chr1:
16099702-16099702

A

G

intronic

De novo

-

-

Trost2022 G

FBLIM1

2-1114-003

chr1:
16092588-16092588

G

A

intronic

De novo

-

-

Trost2022 G

FBLIM1

5-5162-003

chr1:
16084596-16084596

A

T

upstream

De novo

-

-

Trost2022 G

FBLIM1

SP0012895

chr1:
16095164-16095164

A

C

intronic

De novo

-

Trost2022 G

FBLIM1

AU3727302

chr1:
16092771-16092787

TTGTGTGTGTGTGTGTA

T

intronic

De novo

-

-

Trost2022 G

FBLIM1

1-0385-003

chr1:
16088502-16088502

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FBLIM1

3-0175-000

chr1:
16107778-16107778

G

A

intronic

De novo

-

-

Trost2022 G

FBLIM1

7-0105-003

chr1:
16099709-16099709

T

C

intronic

De novo

-

-

Trost2022 G

FBLIM1

SSC03715

chr1:
16101147-16101147

T

G

exonic

De novo

nonsynonymous SNV

NM_001024216
NM_001024215
NM_017556

c.T455G
c.T746G
c.T746G

p.V152G
p.V249G
p.V249G

11.85

Lim2017 E

FBLIM1

iHART2956

chr1:
16101422-16101432

TACAGGGCTGG

T

exonic

Paternal

frameshift deletion

NM_001024215

c.1022_1031del

p.Y341fs

-

Ruzzo2019 G

FBLIM1

iHART2958

chr1:
16101422-16101432

TACAGGGCTGG

T

exonic

Paternal

frameshift deletion

NM_001024215

c.1022_1031del

p.Y341fs

-

Ruzzo2019 G

FBLIM1

mAGRE2442

chr1:
16101479-16101479

C

T

exonic

Maternal

stopgain

NM_001024215

c.C1078T

p.R360X

13.04

Cirnigliaro2023 G

FBLIM1

DEASD_0241_001

chr1:
16096936-16096936

C

T

exonic

De novo

nonsynonymous SNV

NM_001024216
NM_001024215
NM_017556

c.C283T
c.C574T
c.C574T

p.P95S
p.P192S
p.P192S

19.89

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

FBLIM1

iHART2442

chr1:
16101479-16101479

C

T

exonic

Maternal

stopgain

NM_001024215

c.C1078T

p.R360X

13.04

Ruzzo2019 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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