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Results for "TRPM1"

Variant Events: 18

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     2-0306-004chr15:
31351188-31351188
AGintronicDe novo--Yuen2017 G
TRPM1     AU2123301chr15:
31428905-31428905
AGintronicDe novo--Yuen2017 G
TRPM1     iHART3297chr15:
31318341-31318341
CAsplicingPaternalsplicing13.388.329E-6Ruzzo2019 G
TRPM1     1-0826-004chr15:
31327595-31327595
CTintronicDe novo--Yuen2017 G
TRPM1     iHART2564chr15:
31355320-31355320
CTsplicingMaternalsplicing28.4-Ruzzo2019 G
TRPM1     iHART2565chr15:
31355320-31355320
CTsplicingMaternalsplicing28.4-Ruzzo2019 G
TRPM1     13707.p1chr15:
31330304-31330304
GCexonicDe novononsynonymous SNVNM_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
TRPM1     AU2787302chr15:
31476451-31476451
GAintergenicDe novo--Yuen2017 G
TRPM1     PN400157chr15:
31342635-31342635
GAexonicUnknownnonsynonymous SNVNM_001252020
NM_002420
NM_001252024
c.C1465T
c.C1348T
c.C1414T
p.R489W
p.R450W
p.R472W
15.634.969E-5Leblond2019 E
TRPM1     7-0248-003chr15:
31344776-31344776
GAintronicDe novo--Yuen2017 G
TRPM1     AU3371302chr15:
31316030-31316030
GAintronicDe novo--Yuen2017 G
TRPM1     AU075803chr15:
31469744-31469744
GAintergenicDe novo--Yuen2017 G
TRPM1     2-1620-004chr15:
31489264-31489264
TTCintergenicDe novo--Yuen2017 G
TRPM1     Lim2017:70417chr15:
31330304-31330304
GCexonicDe novononsynonymous SNVNM_001252020
NM_002420
NM_001252024
c.C2433G
c.C2316G
c.C2382G
p.F811L
p.F772L
p.F794L
5.937-Lim2017 E
TRPM1     1-0566-003chr15:
31365104-31365104
GAintronicDe novo--Yuen2017 G
TRPM1     1-0638-003chr15:
31452612-31452612
CTintronicDe novo--Yuen2017 G
TRPM1     2-1116-003chr15:
31464111-31464111
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
TRPM1     11195.p1chr15:
31352736-31352738
AACAintronicDe novo--Krumm2015 E
Satterstrom2020 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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