Variant Results

or

Results for "TSHR"

Variant Events: 31

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

TSHR

2-0286-003

chr14:
81611893-81611893

C

T

UTR3

De novo

-

Trost2022 G
Yuen2017 G

TSHR

2-0318-003

chr14:
81497094-81497094

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TSHR

REACH000544

chr14:
81531753-81531753

A

G

intronic

De novo

-

Trost2022 G

TSHR

3-0731-001A

chr14:
81535407-81535407

T

C

intronic

De novo

-

Trost2022 G

TSHR

1-1040-004

chr14:
81425780-81425780

A

G

intronic

De novo

-

Trost2022 G

TSHR

2-1408-003

chr14:
81437243-81437243

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TSHR

MSSNG00045-005

chr14:
81430256-81430256

T

C

intronic

De novo

-

Trost2022 G

TSHR

2-1380-003

chr14:
81449061-81449061

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TSHR

MSSNG00394-003

chr14:
81595111-81595111

G

A

intronic

De novo

-

Trost2022 G

TSHR

SP0038707

chr14:
81609890-81609890

G

A

exonic

De novo

synonymous SNV

NM_000369

c.G1488A

p.T496T

-

4.945E-5

Trost2022 G

TSHR

2-1341-004

chr14:
81548469-81548469

A

C

intronic

De novo

-

Trost2022 G

TSHR

SP0009609

chr14:
81569976-81569976

G

A

intronic

De novo

-

Trost2022 G

TSHR

2-1341-004

chr14:
81548462-81548462

T

C

intronic

De novo

-

Trost2022 G

TSHR

2-0129-004

chr14:
81548469-81548469

A

C

intronic

De novo

-

Trost2022 G

TSHR

20-1301909-05

chr14:
81574996-81574996

A

T

exonic

De novo

stopgain

NM_001018036
NM_001142626

c.A733T
c.A796T

p.K245X
p.K266X

14.34

-

Fu2022 E

TSHR

2-0129-004

chr14:
81548462-81548462

T

C

intronic

De novo

-

Trost2022 G

TSHR

2-0116-005

chr14:
81548462-81548462

T

C

intronic

De novo

-

Trost2022 G

TSHR

AU011604

chr14:
81475477-81475477

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TSHR

7-0168-003

chr14:
81581160-81581160

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TSHR

AU4234302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

TSHR

AU056604

chr14:
81613320-81613320

A

C

downstream

De novo

-

Trost2022 G
Yuen2017 G

TSHR

20-1301909-05

chr14:
81574991-81574991

C

T

exonic

De novo

nonsynonymous SNV

NM_001018036
NM_001142626

c.C728T
c.C791T

p.T243I
p.T264I

12.24

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TSHR

SP0008212

chr14:
81610383-81610383

A

G

exonic

Mosaic

nonsynonymous SNV

NM_000369

c.A1981G

p.I661V

11.07

-

Feliciano2019 E

TSHR

2-1734-003

chr14:
81427248-81427248

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TSHR

mAGRE1108

chr14:
81610620-81610620

G

T

exonic

Paternal

stopgain

NM_000369

c.G2218T

p.E740X

37.0

-

Cirnigliaro2023 G

TSHR

mAGRE5394

chr14:
81610039-81610039

G

A

exonic

Maternal

stopgain

NM_000369

c.G1637A

p.W546X

26.6

9.885E-5

Cirnigliaro2023 G

TSHR

mAGRE5393

chr14:
81610039-81610039

G

A

exonic

Maternal

stopgain

NM_000369

c.G1637A

p.W546X

26.6

9.885E-5

Cirnigliaro2023 G

TSHR

AU1795303

chr14:
81585610-81585610

T

C

intronic

De novo

-

Yuen2017 G

TSHR

2-1368-003

chr14:
81543369-81543386

TTCTCTCTCTCTCTCTCT

TTCTCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

TSHR

AU4028302

chr14:
81503065-81503065

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TSHR

iHART1108

chr14:
81610620-81610620

G

T

exonic

Paternal

stopgain

NM_000369

c.G2218T

p.E740X

37.0

-

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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