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Results for "TRPM6"

Variant Events: 17

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
TRPM6     14696.p1chr9:
77470438-77470438
CTintronicDe novo--Satterstrom2020 E
TRPM6     2-1127-003chr9:
77353334-77353334
ATexonicDe novostopgainNM_001177310
NM_001177311
NM_017662
c.T5750A
c.T5750A
c.T5765A
p.L1917X
p.L1917X
p.L1922X
47.0-Yuen2016 G
Yuen2017 G
TRPM6     1-0569-003chr9:
77518962-77518962
GTintergenicDe novo--Yuen2017 G
TRPM6     12908.p1chr9:
77339567-77339567
TGexonicDe novononsynonymous SNVNM_001177310
NM_001177311
NM_017662
c.A6016C
c.A6016C
c.A6031C
p.T2006P
p.T2006P
p.T2011P
12.22-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
TRPM6     SSC05274chr9:
77407627-77407627
AGexonicDe novosynonymous SNVNM_001177310
NM_001177311
NM_017662
c.T2436C
c.T2436C
c.T2451C
p.G812G
p.G812G
p.G817G
--Lim2017 E
TRPM6     12414.p1chr9:
77407627-77407627
AGexonicDe novosynonymous SNVNM_001177310
NM_001177311
NM_017662
c.T2436C
c.T2436C
c.T2451C
p.G812G
p.G812G
p.G817G
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
TRPM6     14448.p1chr9:
77416901-77416901
GTexonicDe novononsynonymous SNVNM_001177310
NM_001177311
NM_017662
c.C1907A
c.C1907A
c.C1922A
p.A636E
p.A636E
p.A641E
17.81-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
TRPM6     2-0081-003chr9:
77507708-77507708
ACintergenicDe novo--Yuen2017 G
TRPM6     Cukier2014:7506chr9:
77454973-77454973
CTexonicUnknownnonsynonymous SNVNM_001177310
NM_001177311
NM_017662
c.G496A
c.G496A
c.G511A
p.G166R
p.G166R
p.G171R
33.00.0026Cukier2014 E
TRPM6     AU008505chr9:
77531458-77531458
TCintergenicDe novo--Yuen2017 G
TRPM6     AU034903chr9:
77391225-77391225
GAintronicDe novo--Yuen2017 G
TRPM6     Cukier2014:7590chr9:
77367203-77367203
TCexonicUnknownnonsynonymous SNVNM_001177310
NM_001177311
NM_017662
c.A4973G
c.A4973G
c.A4988G
p.Q1658R
p.Q1658R
p.Q1663R
18.230.0077Cukier2014 E
TRPM6     7-0183-003chr9:
77368505-77368505
GAintronicDe novo--Yuen2017 G
TRPM6     AU3721301chr9:
77342850-77342850
GAintronicDe novo--Yuen2017 G
TRPM6     Lim2017:78755chr9:
77416901-77416901
GTexonicDe novononsynonymous SNVNM_001177310
NM_001177311
NM_017662
c.C1907A
c.C1907A
c.C1922A
p.A636E
p.A636E
p.A641E
17.81-Lim2017 E
TRPM6     AU057405chr9:
77525773-77525773
GAintergenicDe novo--Yuen2017 G
TRPM6     AU3911302chr9:
77467735-77467735
GAintronicDe 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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