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Results for "TRPM8"

Variant Events: 25

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     7-0055-003chr2:
234896119-234896119
CAintronicDe novo--Trost2022 G
Yuen2017 G
TRPM8     2-1493-003chr2:
234842510-234842510
GCintronicDe novo--Trost2022 G
TRPM8     REACH000697chr2:
234895906-234895906
TCintronicDe novo--Trost2022 G
TRPM8     14-1011chr2:
234832176-234832176
CTintronicDe novo--Trost2022 G
TRPM8     AU4054301chr2:
234944663-234944663
CAintergenicDe novo--Yuen2017 G
TRPM8     5-0025-004chr2:
234939321-234939321
GAintergenicDe novo--Yuen2017 G
TRPM8     2-1823-004chr2:
234920358-234920358
CTintronicDe novo--Trost2022 G
TRPM8     5-5165-003chr2:
234927277-234927277
TTCGCUTR3De novo--Trost2022 G
TRPM8     1-1086-003chr2:
234905770-234905770
TGintronicDe novo--Trost2022 G
TRPM8     5-0065-003chr2:
234933435-234933435
GGAGACintergenicDe novo--Yuen2017 G
TRPM8     MSSNG00392-003chr2:
234910622-234910622
CGintronicDe novo--Trost2022 G
TRPM8     SP0001931chr2:
234890420-234890420
TGexonicDe novononsynonymous SNVNM_024080c.T2450Gp.L817R14.78-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
TRPM8     5-0095-003chr2:
234932088-234932088
GAintergenicDe novo--Yuen2017 G
TRPM8     AU2793302chr2:
234865638-234865638
GTintronicDe novo--Trost2022 G
Yuen2017 G
TRPM8     MT_69chr2:
234851324-234851324
GAexonicPaternalnonsynonymous SNVNM_024080c.G631Ap.A211T11.01-Toma2013 E
TRPM8     AU4234302chr2:
234925262-234925262
CTintronicDe novo--Yuen2017 G
TRPM8     1-0835-003chr2:
234858369-234858369
TCintronicDe novo--Trost2022 G
Yuen2017 G
TRPM8     7-0141-003chr2:
234902087-234902087
CTintronicDe novo--Yuen2017 G
TRPM8     F9720-1chr2:
234858676-234858676
GCexonicDe novosynonymous SNVNM_024080c.G1026Cp.L342L--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TRPM8     GM180281chr2:
234839342-234839342
TCexonicDe novosynonymous SNVNM_024080c.T147Cp.F49F--Fu2022 E
TRPM8     SP0001948chr2:
234873434-234873434
GAintronicDe novo-4.157E-5Fu2022 E
Trost2022 G
TRPM8     mAGRE3023chr2:
234890455-234890455
CTexonicPaternalstopgainNM_024080c.C2485Tp.R829X38.07.416E-5Cirnigliaro2023 G
TRPM8     SP0035605chr2:
234855956-234855956
CTintronicDe novo-1.0E-4Fu2022 E
Trost2022 G
TRPM8     mAGRE3021chr2:
234890455-234890455
CTexonicPaternalstopgainNM_024080c.C2485Tp.R829X38.07.416E-5Cirnigliaro2023 G
TRPM8     SP0117990chr2:
234915591-234915591
ACexonicDe novosynonymous SNVNM_024080c.A3225Cp.S1075S--Fu2022 E
Source Variant Information

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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 notesView
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