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Results for "TRPM7"

Variant Events: 10

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
TRPM7     2-0214-004chr15:
50986777-50986777
ATintergenicDe novo--Yuen2017 G
TRPM7     AU2711303chr15:
50901254-50901254
TCintronicDe novo--Yuen2017 G
TRPM7     11962.p1chr15:
50923683-50923683
TCexonicDe novononsynonymous SNVNM_001301212
NM_017672
c.A1135G
c.A1135G
p.T379A
p.T379A
26.4-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
TRPM7     342-06-106447chr15:
50902004-50902004
ATexonicDe novononsynonymous SNVNM_001301212
NM_017672
c.T2435A
c.T2435A
p.M812K
p.M812K
14.24-Satterstrom2020 E
TRPM7     2-1644-003chr15:
50989549-50989549
GGCACTintergenicDe novo--Yuen2017 G
TRPM7     2-1422-003chr15:
50873250-50873254
AATTTAintronicDe novo--Yuen2016 G
TRPM7     1-0972-003chr15:
50864544-50864544
ACintronicDe novo--Yuen2017 G
TRPM7     SSC03560chr15:
50923683-50923683
TCexonicDe novononsynonymous SNVNM_001301212
NM_017672
c.A1135G
c.A1135G
p.T379A
p.T379A
26.4-Lim2017 E
TRPM7     1-0414-005chr15:
50946518-50946518
CTintronicDe novo--Yuen2017 G
TRPM7     14321.p1chr15:
50903265-50903265
AGintronicDe novo-8.491E-6Satterstrom2020 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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