Variant Results

or

Results for "TRPM1"

Variant Events: 40

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

TRPM1

2-0306-004

chr15:
31351188-31351188

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM1

3-0626-000A

chr15:
31403772-31403772

C

G

intronic

De novo

-

Trost2022 G

TRPM1

2-0733-003

chr15:
31406338-31406338

T

G

intronic

De novo

-

Trost2022 G

TRPM1

1017_17mr

chr15:
31328047-31328047

T

C

intronic

De novo

-

Fu2022 E

TRPM1

2-1765-003

chr15:
31395423-31395423

G

A

intronic

De novo

-

Trost2022 G

TRPM1

5-5023-003

chr15:
31399183-31399183

G

T

intronic

De novo

-

Trost2022 G

TRPM1

AU2123301

chr15:
31428905-31428905

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM1

5331

chr15:
31352736-31352738

AAC

A

intronic

De novo

-

Trost2022 G

TRPM1

SJD_58.4

chr15:
31376250-31376250

C

A

intronic

De novo

-

Trost2022 G

TRPM1

1-0826-004

chr15:
31327595-31327595

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM1

MSSNG00352-004

chr15:
31330846-31330846

C

T

intronic

De novo

-

Trost2022 G

TRPM1

mAGRE5775

chr15:
31295274-31295274

C

T

splicing

Maternal

splicing

14.54

2.596E-5

Cirnigliaro2023 G

TRPM1

13707.p1

chr15:
31330304-31330304

G

C

exonic

De novo

nonsynonymous SNV

NM_001252020
NM_002420
NM_001252024

c.C2433G
c.C2316G
c.C2382G

p.F811L
p.F772L
p.F794L

5.937

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

TRPM1

PN400157

chr15:
31342635-31342635

G

A

exonic

Unknown

nonsynonymous SNV

NM_001252020
NM_002420
NM_001252024

c.C1465T
c.C1348T
c.C1414T

p.R489W
p.R450W
p.R472W

15.63

4.969E-5

Leblond2019 E

TRPM1

AU3636302

chr15:
31294726-31294730

AGTCT

A

exonic

Paternal

frameshift deletion

NM_001252020
NM_002420
NM_001252024

c.4224_4227del
c.4107_4110del
c.4173_4176del

p.T1408fs
p.T1369fs
p.T1391fs

-

2.0E-4

Cirnigliaro2023 G

TRPM1

mAGRE4103

chr15:
31294717-31294717

C

A

exonic

Paternal

stopgain

NM_001252020
NM_002420
NM_001252024

c.G4237T
c.G4120T
c.G4186T

p.E1413X
p.E1374X
p.E1396X

39.0

8.281E-6

Cirnigliaro2023 G

TRPM1

7-0248-003

chr15:
31344776-31344776

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM1

4-0108-003

chr15:
31431113-31431113

C

T

intronic

De novo

-

Trost2022 G

TRPM1

3-0626-000A

chr15:
31406392-31406392

G

T

intronic

De novo

-

Trost2022 G

TRPM1

1-0628-003

chr15:
31425882-31425882

C

A

intronic

De novo

-

Trost2022 G

TRPM1

2-1620-004

chr15:
31489264-31489264

T

TC

intergenic

De novo

-

Yuen2017 G

TRPM1

Lim2017:70417

chr15:
31330304-31330304

G

C

exonic

De novo

nonsynonymous SNV

NM_001252020
NM_002420
NM_001252024

c.C2433G
c.C2316G
c.C2382G

p.F811L
p.F772L
p.F794L

5.937

-

Lim2017 E

TRPM1

1-0566-003

chr15:
31365104-31365104

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM1

mAGRE2565

chr15:
31355320-31355320

C

T

splicing

Maternal

splicing

28.4

-

Cirnigliaro2023 G

TRPM1

mAGRE2564

chr15:
31355320-31355320

C

T

splicing

Maternal

splicing

28.4

-

Cirnigliaro2023 G

TRPM1

mAGRE4292

chr15:
31352785-31352787

CTA

C

exonic

Paternal

frameshift deletion

NM_001252020
NM_002420
NM_001252024

c.1274_1275del
c.1157_1158del
c.1223_1224del

p.I425fs
p.I386fs
p.I408fs

-

Cirnigliaro2023 G

TRPM1

AU4234303

chr15:
31318341-31318341

C

A

splicing

Paternal

splicing

13.38

8.329E-6

Cirnigliaro2023 G

TRPM1

mAGRE5776

chr15:
31295274-31295274

C

T

splicing

Maternal

splicing

14.54

2.596E-5

Cirnigliaro2023 G

TRPM1

1-0638-003

chr15:
31452612-31452612

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM1

2-1116-003

chr15:
31464111-31464111

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TRPM1

11195.p1

chr15:
31352736-31352738

AAC

A

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E

TRPM1

iHART3297

chr15:
31318341-31318341

C

A

splicing

Paternal

splicing

13.38

8.329E-6

Ruzzo2019 G

TRPM1

iHART2564

chr15:
31355320-31355320

C

T

splicing

Maternal

splicing

28.4

-

Ruzzo2019 G

TRPM1

iHART2565

chr15:
31355320-31355320

C

T

splicing

Maternal

splicing

28.4

-

Ruzzo2019 G

TRPM1

AU2787302

chr15:
31476451-31476451

G

A

intergenic

De novo

-

Yuen2017 G

TRPM1

SP0064957

chr15:
31334065-31334065

T

G

intronic

De novo

-

Fu2022 E

TRPM1

AU3371302

chr15:
31316030-31316030

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM1

SP0122825

chr15:
31338478-31338478

A

AGTATTGT

intronic

De novo

-

Fu2022 E

TRPM1

AU075803

chr15:
31469744-31469744

G

A

intergenic

De novo

-

Yuen2017 G

TRPM1

70417

chr15:
31330304-31330304

G

C

exonic

De novo

nonsynonymous SNV

NM_001252020
NM_002420
NM_001252024

c.C2433G
c.C2316G
c.C2382G

p.F811L
p.F772L
p.F794L

5.937

-

Fu2022 E
Trost2022 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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