Variant Results

or

Results for "FHOD3"

Variant Events: 62

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

FHOD3

2-0149-004

chr18:
34010386-34010386

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FHOD3

AU030103

chr18:
34281094-34281094

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FHOD3

JASD_Fam0151

chr18:
33877804-33877804

C

T

exonic

De novo

synonymous SNV

NM_001281739
NM_001281740
NM_025135

c.C6T
c.C6T
c.C6T

p.A2A
p.A2A
p.A2A

-

Takata2018 E

FHOD3

AU000704

chr18:
34349233-34349233

A

T

exonic

De novo

nonsynonymous SNV

NM_001281739
NM_025135
NM_001281740

c.A4030T
c.A4081T
c.A4630T

p.T1344S
p.T1361S
p.T1544S

6.069

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

FHOD3

3-0216-000

chr18:
34296397-34296397

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FHOD3

2-1297-004

chr18:
33952343-33952344

TA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FHOD3

2-1255-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

FHOD3

3-0376-000

chr18:
33928416-33928416

T

A

intronic

De novo

-

Trost2022 G

FHOD3

1-0186-004

chr18:
34226047-34226047

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FHOD3

3-0368-000

chr18:
33938334-33938334

G

C

intronic

De novo

-

Trost2022 G

FHOD3

MSSNG00344-004

chr18:
33888303-33888303

G

A

intronic

De novo

-

Trost2022 G

FHOD3

MSSNG00016-004

chr18:
33906815-33906815

C

T

intronic

De novo

-

Trost2022 G

FHOD3

AU3506303

chr18:
34051837-34051837

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FHOD3

3-0191-000

chr18:
34060232-34060232

T

G

intronic

De novo

-

Trost2022 G

FHOD3

MSSNG00385-003

chr18:
34119532-34119532

G

A

intronic

De novo

-

Trost2022 G

FHOD3

3-0099-000

chr18:
34018124-34018124

A

G

intronic

De novo

-

Trost2022 G

FHOD3

2-1720-003

chr18:
34019526-34019526

G

A

intronic

De novo

-

Trost2022 G

FHOD3

10-1129-005

chr18:
33997948-33997948

T

C

intronic

De novo

-

Trost2022 G

FHOD3

2-1297-003

chr18:
34006158-34006158

C

G

intronic

De novo

-

Trost2022 G

FHOD3

7-0288-003

chr18:
33978848-33978848

G

T

intronic

De novo

-

Trost2022 G

FHOD3

AU2288301

chr18:
33996120-33996120

C

T

intronic

De novo

-

Trost2022 G

FHOD3

7-0202-003

chr18:
34194141-34194141

C

T

intronic

De novo

-

Trost2022 G

FHOD3

MSSNG00361-004

chr18:
34224259-34224259

C

G

intronic

De novo

-

Trost2022 G

FHOD3

3-0215-000

chr18:
34165955-34165955

C

T

intronic

De novo

-

Trost2022 G

FHOD3

1-1222-003

chr18:
34190250-34190250

C

G

intronic

De novo

-

Trost2022 G

FHOD3

REACH000555

chr18:
34127247-34127247

C

T

intronic

De novo

-

Trost2022 G

FHOD3

3-0371-000

chr18:
34146007-34146007

G

A

intronic

De novo

-

Trost2022 G

FHOD3

7-0392-003

chr18:
34120330-34120330

G

A

intronic

De novo

-

Trost2022 G

FHOD3

SJD_8.3

chr18:
34126766-34126766

T

G

intronic

De novo

-

Trost2022 G

FHOD3

2-0270-003

chr18:
34258013-34258013

A

C

intronic

De novo

-

Trost2022 G

FHOD3

2-1246-003

chr18:
34258016-34258016

G

T

intronic

De novo

-

Trost2022 G

FHOD3

2-0270-003

chr18:
34258004-34258004

T

TCC

intronic

De novo

-

Trost2022 G

FHOD3

2-1246-003

chr18:
34258013-34258013

A

C

intronic

De novo

-

Trost2022 G

FHOD3

C9C2C_01

chr18:
34250735-34250735

G

C

intronic

De novo

-

Trost2022 G

FHOD3

2-1246-003

chr18:
34258004-34258004

T

TCC

intronic

De novo

-

Trost2022 G

FHOD3

AU1448303

chr18:
34236313-34236313

A

G

intronic

De novo

-

Trost2022 G

FHOD3

1-0683-004

chr18:
33883415-33883415

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FHOD3

AU4056301

chr18:
34343184-34343184

C

T

intronic

De novo

-

Yuen2017 G

FHOD3

2-1091-003

chr18:
34244853-34244853

A

T

intronic

De novo

-

Trost2022 G

FHOD3

REACH000189

chr18:
34338320-34338320

C

G

intronic

De novo

-

Trost2022 G

FHOD3

1-0088-003

chr18:
34301326-34301326

A

G

intronic

De novo

-

Trost2022 G

FHOD3

3-0005-000

chr18:
34330232-34330234

CAG

C

intronic

De novo

-

Trost2022 G

FHOD3

AU011903

chr18:
33962431-33962431

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FHOD3

7-0383-003

chr18:
34260863-34260863

G

GA

intronic

De novo

-

Trost2022 G

FHOD3

REACH000735

chr18:
34281998-34281998

A

G

intronic

De novo

-

Trost2022 G

FHOD3

2-1246-003

chr18:
34258020-34258022

TTC

ATT

intronic

De novo

-

Trost2022 G

FHOD3

1-0052-004

chr18:
34065539-34065539

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FHOD3

2-1246-003

chr18:
34258024-34258026

TGG

T

intronic

De novo

-

Trost2022 G

FHOD3

5-0099-003

chr18:
34270734-34270734

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FHOD3

1-0458-004

chr18:
34329603-34329603

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FHOD3

G01-GEA-104-HI

chr18:
34297863-34297863

C

T

exonic

De novo

nonsynonymous SNV

NM_001281739
NM_025135
NM_001281740

c.C2026T
c.C2077T
c.C2602T

p.R676W
p.R693W
p.R868W

16.59

1.677E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FHOD3

1-0107-003

chr18:
33961699-33961699

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FHOD3

SP0012667

chr18:
34298742-34298742

G

T

intronic

De novo

-

Fu2022 E
Trost2022 G

FHOD3

SP0099141

chr18:
34092421-34092421

T

C

exonic

De novo

synonymous SNV

NM_001281739
NM_001281740
NM_025135

c.T426C
c.T426C
c.T426C

p.H142H
p.H142H
p.H142H

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FHOD3

SP0086530

chr18:
34205669-34205669

G

GCTCC

exonic

De novo

frameshift insertion

NM_001281739
NM_001281740
NM_025135

c.1153_1154insCTCC
c.1153_1154insCTCC
c.1153_1154insCTCC

p.A385fs
p.A385fs
p.A385fs

-

Fu2022 E
Zhou2022 GE

FHOD3

2-1364-003

chr18:
34168683-34168691

GTTTGTTTT

GTTT

intronic

De novo

-

Yuen2017 G

FHOD3

2-1378-003

chr18:
34003925-34003925

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FHOD3

2-1820-003

chr18:
34335121-34335121

T

C

exonic

De novo

synonymous SNV

NM_001281739
NM_025135
NM_001281740

c.T3696C
c.T3747C
c.T4272C

p.Y1232Y
p.Y1249Y
p.Y1424Y

-

Trost2022 G
Zhou2022 GE

FHOD3

2-1129-003

chr18:
34095724-34095724

T

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FHOD3

AU030104

chr18:
34281094-34281094

G

A

intronic

De novo

-

Yuen2017 G

FHOD3

3-0469-000

chr18:
34231122-34231122

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FHOD3

AU4308302

chr18:
34038946-34038946

G

A

intronic

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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