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Results for "TRPM8"

Variant Events: 12

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     1-0835-003chr2:
234858369-234858369
TCintronicDe novo--Yuen2017 G
TRPM8     SP0001931chr2:
234890420-234890420
TGexonicDe novononsynonymous SNVNM_024080c.T2450Gp.L817R14.78-Feliciano2019 E
TRPM8     5-0095-003chr2:
234932088-234932088
GAintergenicDe novo--Yuen2017 G
TRPM8     7-0141-003chr2:
234902087-234902087
CTintronicDe novo--Yuen2017 G
TRPM8     AU2793302chr2:
234865638-234865638
GTintronicDe novo--Yuen2017 G
TRPM8     MT_69chr2:
234851324-234851324
GAexonicPaternalnonsynonymous SNVNM_024080c.G631Ap.A211T11.01-Toma2013 E
TRPM8     F9720-1chr2:
234858676-234858676
GCexonicDe novosynonymous SNVNM_024080c.G1026Cp.L342L--Satterstrom2020 E
TRPM8     AU4054301chr2:
234944663-234944663
CAintergenicDe novo--Yuen2017 G
TRPM8     7-0055-003chr2:
234896119-234896119
CAintronicDe novo--Yuen2017 G
TRPM8     5-0025-004chr2:
234939321-234939321
GAintergenicDe novo--Yuen2017 G
TRPM8     AU4234302chr2:
234925262-234925262
CTintronicDe novo--Yuen2017 G
TRPM8     5-0065-003chr2:
234933435-234933435
GGAGACintergenicDe novo--Yuen2017 G
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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