Variant Results

or

or

Results for "TRPM8"

Variant Events: 16

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

TRPM8

SP0001931

chr2:
234890420-234890420

T

G

exonic

De novo

nonsynonymous SNV

NM_024080

c.T2450G

p.L817R

14.78

-

Feliciano2019 E
Fu2022 E

TRPM8

5-0095-003

chr2:
234932088-234932088

G

A

intergenic

De novo

-

-

Yuen2017 G

TRPM8

AU2793302

chr2:
234865638-234865638

G

T

intronic

De novo

-

-

Yuen2017 G

TRPM8

MT_69

chr2:
234851324-234851324

G

A

exonic

Paternal

nonsynonymous SNV

NM_024080

c.G631A

p.A211T

11.01

-

Toma2013 E

TRPM8

7-0055-003

chr2:
234896119-234896119

C

A

intronic

De novo

-

-

Yuen2017 G

TRPM8

AU4234302

chr2:
234925262-234925262

C

T

intronic

De novo

-

-

Yuen2017 G

TRPM8

1-0835-003

chr2:
234858369-234858369

T

C

intronic

De novo

-

-

Yuen2017 G

TRPM8

7-0141-003

chr2:
234902087-234902087

C

T

intronic

De novo

-

-

Yuen2017 G

TRPM8

F9720-1

chr2:
234858676-234858676

G

C

exonic

De novo

synonymous SNV

NM_024080

c.G1026C

p.L342L

-

-

Fu2022 E
Satterstrom2020 E

TRPM8

AU4054301

chr2:
234944663-234944663

C

A

intergenic

De novo

-

-

Yuen2017 G

TRPM8

GM180281

chr2:
234839342-234839342

T

C

exonic

De novo

synonymous SNV

NM_024080

c.T147C

p.F49F

-

-

Fu2022 E

TRPM8

SP0001948

chr2:
234873434-234873434

G

A

intronic

De novo

-

Fu2022 E

TRPM8

SP0035605

chr2:
234855956-234855956

C

T

intronic

De novo

-

Fu2022 E

TRPM8

5-0025-004

chr2:
234939321-234939321

G

A

intergenic

De novo

-

-

Yuen2017 G

TRPM8

SP0117990

chr2:
234915591-234915591

A

C

exonic

De novo

synonymous SNV

NM_024080

c.A3225C

p.S1075S

-

-

Fu2022 E

TRPM8

5-0065-003

chr2:
234933435-234933435

G

GAGAC

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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