Variant Results

or

Results for "FSHR"

Variant Events: 79

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

FSHR

2-1437-003

chr2:
50109456-50109456

G

C

intergenic

De novo

-

Yuen2017 G

FSHR

2-1506-003

chr2:
49625748-49625763

CCAGCAGCAGCAGCAG

CCAGCAGCAGCAG

intergenic

De novo

-

Yuen2017 G

FSHR

A3

chr2:
49614282-49614282

G

T

intergenic

De novo

-

Wu2018 G

FSHR

AU4215302

chr2:
50114811-50114811

G

C

intergenic

De novo

-

Yuen2017 G

FSHR

1-0511-003

chr2:
49255135-49255135

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSHR

1-0104-003

chr2:
49614629-49614629

G

A

intergenic

De novo

-

Yuen2017 G

FSHR

AU1952305

chr2:
49716554-49716554

G

A

intergenic

De novo

-

Yuen2017 G

FSHR

AU4429301

chr2:
49883355-49883355

G

A

intergenic

De novo

-

Yuen2017 G

FSHR

2-1353-003

chr2:
49521768-49521768

C

T

intergenic

De novo

-

Yuen2017 G

FSHR

AU065304

chr2:
49602407-49602407

G

C

intergenic

De novo

-

Yuen2017 G

FSHR

1-0763-003

chr2:
49938707-49938707

C

G

intergenic

De novo

-

Yuen2017 G

FSHR

AU3720302

chr2:
49689168-49689168

G

T

intergenic

De novo

-

Yuen2017 G

FSHR

AU3720302

chr2:
49695475-49695475

G

C

intergenic

De novo

-

Yuen2017 G

FSHR

AU038204

chr2:
49228016-49228016

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSHR

1-0656-003

chr2:
49309702-49309702

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSHR

1-0067-004

chr2:
49535555-49535555

G

C

intergenic

De novo

-

Yuen2017 G

FSHR

2-0289-004

chr2:
49417048-49417050

CTT

C

intergenic

De novo

-

Yuen2017 G

FSHR

2-1629-003

chr2:
49732213-49732213

T

C

intergenic

De novo

-

Yuen2017 G

FSHR

5-0083-003

chr2:
49173998-49173998

G

C

intergenic

De novo

-

Yuen2017 G

FSHR

AU060703

chr2:
49890122-49890122

G

A

intergenic

De novo

-

Yuen2017 G

FSHR

13515.p1

chr2:
49047709-49047709

G

A

intergenic

De novo

-

Turner2016 G

FSHR

2-1330-003

chr2:
49944727-49944727

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FSHR

AU3371305

chr2:
49861504-49861504

A

G

intergenic

De novo

-

Yuen2017 G

FSHR

AU3889305

chr2:
49228053-49228053

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSHR

12793.p1

chr2:
49907961-49907961

G

A

intergenic

De novo

-

Turner2016 G

FSHR

13023.p1

chr2:
50047651-50047651

A

G

intergenic

De novo

-

Turner2016 G

FSHR

1-0051-005

chr2:
49366223-49366239

TTACATTTCTAAAACAA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSHR

14637.p1

chr2:
49420098-49420098

A

G

intergenic

De novo

-

Turner2016 G

FSHR

1-0186-004

chr2:
49602895-49602895

T

C

intergenic

De novo

-

Yuen2017 G

FSHR

12011.p1

chr2:
49444196-49444196

T

G

intergenic

De novo

-

Turner2016 G

FSHR

5-0083-003

chr2:
49167075-49167075

G

A

intergenic

De novo

-

Yuen2017 G

FSHR

AU3761301

chr2:
49838958-49838958

T

C

intergenic

De novo

-

Yuen2017 G

FSHR

111316

chr2:
49217744-49217744

G

T

exonic

nonsynonymous SNV

NM_000145
NM_181446

c.C407A
c.C407A

p.P136Q
p.P136Q

20.2

-

Woodbury-Smith2022 E

FSHR

1-0669-003

chr2:
49802844-49802844

G

A

intergenic

De novo

-

Yuen2017 G

FSHR

REACH000173

chr2:
49231292-49231292

C

T

intronic

De novo

-

Trost2022 G

FSHR

5-0015-003

chr2:
49451940-49451940

T

C

intergenic

De novo

-

Yuen2017 G

FSHR

MSSNG00054-004

chr2:
49223585-49223585

C

T

intronic

De novo

-

Trost2022 G

FSHR

1-0664-003A

chr2:
49261073-49261073

T

C

intronic

De novo

-

Trost2022 G

FSHR

1-0433-003

chr2:
49805612-49805612

C

T

intergenic

De novo

-

Yuen2017 G

FSHR

1-1183-003

chr2:
49251661-49251661

G

T

intronic

De novo

-

Trost2022 G

FSHR

1-0051-004

chr2:
49654522-49654522

G

A

intergenic

De novo

-

Yuen2017 G

FSHR

SP0065563

chr2:
49190174-49190174

A

T

exonic

De novo

nonsynonymous SNV

NM_181446
NM_000145

c.T1708A
c.T1786A

p.S570T
p.S596T

12.71

2.475E-5

Trost2022 G

FSHR

MSSNG00008-004

chr2:
49189855-49189855

C

T

UTR3

De novo

-

8.252E-6

Trost2022 G

FSHR

AU3154302

chr2:
49105690-49105690

T

C

intergenic

De novo

-

Yuen2017 G

FSHR

AU3912302

chr2:
49128835-49128835

A

T

intergenic

De novo

-

Yuen2017 G

FSHR

MT_189.3

chr2:
49361245-49361245

G

A

intronic

De novo

-

Trost2022 G

FSHR

AU3912302

chr2:
49685207-49685207

A

C

intergenic

De novo

-

Yuen2017 G

FSHR

2-1548-003

chr2:
49360515-49360515

T

C

intronic

De novo

-

Trost2022 G

FSHR

1-1191-003

chr2:
49370536-49370536

T

C

intronic

De novo

-

Trost2022 G

FSHR

MSSNG00082-003

chr2:
49363659-49363659

G

A

intronic

De novo

-

Trost2022 G

FSHR

MT_34.3

chr2:
49279586-49279586

A

G

intronic

De novo

-

Trost2022 G

FSHR

3-0058-000

chr2:
49270591-49270591

C

A

intronic

De novo

-

Trost2022 G

FSHR

REACH000709

chr2:
49336451-49336451

T

C

intronic

De novo

-

Trost2022 G

FSHR

2-0126-004

chr2:
49316012-49316019

CACTTAAA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSHR

5-0068-003

chr2:
49331811-49331811

A

G

intronic

De novo

-

Trost2022 G

FSHR

1-0531-003

chr2:
50059423-50059423

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FSHR

SP0027996

chr2:
49224317-49224317

C

T

intronic

De novo

-

Fu2022 E
Zhou2022 GE

FSHR

2-0304-003

chr2:
49233411-49233411

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSHR

2-0304-003

chr2:
49116320-49116320

C

G

intergenic

De novo

-

Yuen2017 G

FSHR

1-0092-004

chr2:
49105423-49105423

C

T

intergenic

De novo

-

Yuen2017 G

FSHR

1-0485-003

chr2:
49830784-49830784

C

G

intergenic

De novo

-

Yuen2017 G

FSHR

1-0169-004

chr2:
49325052-49325052

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSHR

2-1461-003

chr2:
49825552-49825552

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FSHR

5-0148-003

chr2:
49183760-49183760

T

C

intergenic

De novo

-

Yuen2017 G

FSHR

1-0286-004

chr2:
49462554-49462554

A

T

intergenic

De novo

-

Yuen2017 G

FSHR

AU4467302

chr2:
49806624-49806624

C

T

intergenic

De novo

-

Yuen2017 G

FSHR

AU4032305

chr2:
49723948-49723948

A

G

intergenic

De novo

-

Yuen2017 G

FSHR

1-0265-004

chr2:
49280318-49280318

T

G

intronic

De novo

-

Yuen2017 G

FSHR

2-1526-003

chr2:
50032804-50032804

T

C

intergenic

De novo

-

Yuen2017 G

FSHR

2-1364-003

chr2:
49991613-49991613

C

T

intergenic

De novo

-

Yuen2017 G

FSHR

AU2950301

chr2:
50096318-50096318

T

A

intergenic

De novo

-

Yuen2017 G

FSHR

AU2950301

chr2:
50106067-50106067

G

C

intergenic

De novo

-

Yuen2017 G

FSHR

AU2950301

chr2:
50126418-50126418

G

A

intergenic

De novo

-

Yuen2017 G

FSHR

AU072004

chr2:
49538413-49538413

C

T

intergenic

De novo

-

Yuen2017 G

FSHR

5-0017-004

chr2:
49088297-49088297

G

A

intergenic

De novo

-

Yuen2017 G

FSHR

1-0265-003

chr2:
49280318-49280318

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSHR

3-0447-000

chr2:
49930186-49930186

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FSHR

1-0068-003

chr2:
49856600-49856600

G

A

intergenic

De novo

-

Yuen2017 G

FSHR

AU030703

chr2:
50019944-50019944

G

A

intergenic

De novo

-

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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