Variant Results

or

Results for "FRMD3"

Variant Events: 46

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

FRMD3

7-0100-003

chr9:
85954523-85954523

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD3

AU4242302

chr9:
86212370-86212370

A

G

intergenic

De novo

-

Yuen2017 G

FRMD3

AU3951301

chr9:
86145491-86145491

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD3

2-1243-003

chr9:
85906285-85906285

A

G

intronic

De novo

-

Trost2022 G

FRMD3

2-1430-005A

chr9:
85920615-85920615

T

A

intronic

De novo

-

Trost2022 G

FRMD3

SP0178319

chr9:
85861208-85861208

T

TATC

UTR3

De novo

-

Trost2022 G

FRMD3

MSSNG00388-003

chr9:
85897901-85897901

T

A

intronic

De novo

-

Trost2022 G

FRMD3

1-0382-003

chr9:
85907214-85907214

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD3

1-0402-004

chr9:
86002396-86002396

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD3

1-0567-004

chr9:
86013731-86013731

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD3

78714

chr9:
85926860-85926860

A

G

exonic

De novo

nonsynonymous SNV

NM_001244961
NM_001244959
NM_001244960
NM_174938

c.T133C
c.T715C
c.T583C
c.T715C

p.F45L
p.F239L
p.F195L
p.F239L

15.86

-

Fu2022 E
Trost2022 G

FRMD3

MSSNG00004-003

chr9:
85859457-85859457

C

T

intronic

De novo

-

Trost2022 G

FRMD3

SP0168858

chr9:
85860262-85860262

A

G

UTR3

De novo

-

Trost2022 G

FRMD3

AU003405

chr9:
86164174-86164174

C

T

intergenic

De novo

-

Yuen2017 G

FRMD3

140400

chr9:
85863235-85863235

G

A

exonic

De novo

synonymous SNV

NM_001244962
NM_001244961
NM_001244959
NM_001244960
NM_174938

c.C363T
c.C810T
c.C1392T
c.C1260T
c.C1392T

p.D121D
p.D270D
p.D464D
p.D420D
p.D464D

-

Fu2022 E

FRMD3

MSSNG00018-003

chr9:
86061321-86061321

C

G

intronic

De novo

-

Trost2022 G

FRMD3

MSSNG00256-005

chr9:
86067435-86067435

C

T

intronic

De novo

-

Trost2022 G

FRMD3

AU2320301

chr9:
86041211-86041211

C

T

intronic

De novo

-

Trost2022 G

FRMD3

7-0123-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G
Yuen2017 G

FRMD3

MSSNG00019-003A

chr9:
86055083-86055083

T

C

intronic

De novo

-

Trost2022 G

FRMD3

2-0081-003

chr9:
86054511-86054511

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD3

4-0062-003

chr9:
85995770-85995771

AA

TT

intronic

De novo

-

Trost2022 G

FRMD3

2-0081-003

chr9:
85911835-85911835

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD3

REACH000322

chr9:
86035164-86035164

A

G

intronic

De novo

-

Trost2022 G

FRMD3

MT_154.3

chr9:
85946867-85946867

G

A

UTR5

De novo

-

Trost2022 G

FRMD3

7-0462-004

chr9:
85958590-85958590

C

G

intronic

De novo

-

Trost2022 G

FRMD3

AU1987301

chr9:
86034883-86034883

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD3

1-0634-003

chr9:
86153515-86153515

C

T

upstream

De novo

-

Trost2022 G

FRMD3

7-0123-003

chr9:
86165312-86165312

T

C

intergenic

De novo

-

Yuen2017 G

FRMD3

AU2299301

chr9:
86116842-86116842

T

C

intronic

De novo

-

Trost2022 G

FRMD3

MSSNG00383-003

chr9:
86124046-86124046

T

A

intronic

De novo

-

Trost2022 G

FRMD3

MSSNG00017-003

chr9:
86074941-86074941

G

T

intronic

De novo

-

Trost2022 G

FRMD3

3-0526-000

chr9:
86077430-86077430

G

C

intronic

De novo

-

Trost2022 G

FRMD3

mAGRE2884

chr9:
85913715-85913717

CTT

C

exonic

Maternal

frameshift deletion

NM_001244961
NM_001244959
NM_001244960
NM_174938

c.434_435del
c.1016_1017del
c.884_885del
c.1016_1017del

p.K145fs
p.K339fs
p.K295fs
p.K339fs

-

Cirnigliaro2023 G

FRMD3

mAGRE2883

chr9:
85913715-85913717

CTT

C

exonic

Maternal

frameshift deletion

NM_001244961
NM_001244959
NM_001244960
NM_174938

c.434_435del
c.1016_1017del
c.884_885del
c.1016_1017del

p.K145fs
p.K339fs
p.K295fs
p.K339fs

-

Cirnigliaro2023 G

FRMD3

2-1407-003

chr9:
86199347-86199347

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FRMD3

1-0382-004

chr9:
85907214-85907214

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD3

1-0113-003

chr9:
86125364-86125364

G

C

intronic

De novo

-

Yuen2016 G

FRMD3

2-1579-003

chr9:
86155651-86155651

T

C

intergenic

De novo

-

Yuen2017 G

FRMD3

iHART2883

chr9:
85913715-85913717

CTT

C

exonic

Maternal

frameshift deletion

NM_001244961
NM_001244959
NM_001244960
NM_174938

c.434_435del
c.1016_1017del
c.884_885del
c.1016_1017del

p.K145fs
p.K339fs
p.K295fs
p.K339fs

-

Ruzzo2019 G

FRMD3

iHART2884

chr9:
85913715-85913717

CTT

C

exonic

Maternal

frameshift deletion

NM_001244961
NM_001244959
NM_001244960
NM_174938

c.434_435del
c.1016_1017del
c.884_885del
c.1016_1017del

p.K145fs
p.K339fs
p.K295fs
p.K339fs

-

Ruzzo2019 G

FRMD3

13598.p1

chr9:
85926860-85926860

A

G

exonic

De novo

nonsynonymous SNV

NM_001244961
NM_001244959
NM_001244960
NM_174938

c.T133C
c.T715C
c.T583C
c.T715C

p.F45L
p.F239L
p.F195L
p.F239L

15.86

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

FRMD3

3-0134-000

chr9:
85958494-85958494

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD3

AU1635302

chr9:
86071438-86071438

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD3

2-1244-003

chr9:
86117146-86117146

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD3

1-0772-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 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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