Variant Results

or

Results for "TRPM7"

Variant Events: 27

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

AU2711303

chr15:
50901254-50901254

T

C

intronic

De novo

-

Yuen2017 G

TRPM7

2-1644-003

chr15:
50989549-50989549

G

GCACT

intergenic

De novo

-

Yuen2017 G

TRPM7

1-0972-003

chr15:
50864544-50864544

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM7

1-0414-005

chr15:
50946518-50946518

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM7

2-0214-004

chr15:
50986777-50986777

A

T

intergenic

De novo

-

Yuen2017 G

TRPM7

11962.p1

chr15:
50923683-50923683

T

C

exonic

De novo

nonsynonymous SNV

NM_001301212
NM_017672

c.A1135G
c.A1135G

p.T379A
p.T379A

26.4

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Zhou2022 GE

TRPM7

342-06-106447

chr15:
50902004-50902004

A

T

exonic

De novo

nonsynonymous SNV

NM_001301212
NM_017672

c.T2435A
c.T2435A

p.M812K
p.M812K

14.24

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TRPM7

REACH000258

chr15:
50910401-50910401

A

G

intronic

De novo

-

Trost2022 G

TRPM7

2-1422-003

chr15:
50873250-50873254

AATTT

A

intronic

De novo

-

Yuen2016 G

TRPM7

10-0006-003

chr15:
50946460-50946461

TA

AG

intronic

De novo

-

Trost2022 G

TRPM7

1045

chr15:
50854154-50854154

C

T

intronic

De novo

-

Trost2022 G

TRPM7

SSC03560

chr15:
50923683-50923683

T

C

exonic

De novo

nonsynonymous SNV

NM_001301212
NM_017672

c.A1135G
c.A1135G

p.T379A
p.T379A

26.4

-

Fu2022 E
Lim2017 E
Trost2022 G

TRPM7

36098

chr15:
50903265-50903265

A

G

intronic

De novo

-

8.491E-6

Trost2022 G

TRPM7

1-0296-003

chr15:
50997267-50997267

C

CAAT

intergenic

De novo

-

Trost2022 G

TRPM7

MT_69.3

chr15:
50997913-50997913

A

G

intergenic

De novo

-

Trost2022 G

TRPM7

SP0045383

chr15:
50885847-50885847

C

T

exonic

De novo

nonsynonymous SNV

NM_001301212
NM_017672

c.G3575A
c.G3575A

p.G1192E
p.G1192E

22.2

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TRPM7

MSSNG00004-003

chr15:
50994458-50994458

T

A

intergenic

De novo

-

Trost2022 G

TRPM7

1-0296-003

chr15:
50997263-50997263

G

TT

intergenic

De novo

-

Trost2022 G

TRPM7

5-0026-003

chr15:
50946598-50946598

T

C

intronic

De novo

-

Trost2022 G

TRPM7

4-0025-003

chr15:
50967673-50967673

T

C

intronic

De novo

-

Trost2022 G

TRPM7

5-0026-003

chr15:
50946588-50946588

G

A

intronic

De novo

-

Trost2022 G

TRPM7

10-0008-003

chr15:
50946588-50946588

G

A

intronic

De novo

-

Trost2022 G

TRPM7

GEA452

chr15:
50897197-50897197

C

CAT

exonic

De novo

frameshift insertion

NM_001301212
NM_017672

c.2853_2854insAT
c.2853_2854insAT

p.A952fs
p.A952fs

-

Fu2022 E

TRPM7

SP0068938

chr15:
50867916-50867916

T

G

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TRPM7

SP0123403

chr15:
50870903-50870903

T

C

intronic

De novo

-

Fu2022 E

TRPM7

14321.p1

chr15:
50903265-50903265

A

G

intronic

De novo

-

8.491E-6

Satterstrom2020 E

TRPM7

SP0038407

chr15:
50906466-50906466

A

G

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

Source Variant Information

, -

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 notes	View
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