Variant Results

or

Results for "TRPM6"

Variant Events: 28

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

2-1127-003

chr9:
77353334-77353334

A

T

exonic

De novo

stopgain

NM_001177310
NM_001177311
NM_017662

c.T5750A
c.T5750A
c.T5765A

p.L1917X
p.L1917X
p.L1922X

47.0

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

TRPM6

Cukier2014:7506

chr9:
77454973-77454973

C

T

exonic

Unknown

nonsynonymous SNV

NM_001177310
NM_001177311
NM_017662

c.G496A
c.G496A
c.G511A

p.G166R
p.G166R
p.G171R

33.0

0.0026

Cukier2014 E

TRPM6

AU034903

chr9:
77391225-77391225

G

A

intronic

De novo

-

Yuen2017 G

TRPM6

Cukier2014:7590

chr9:
77367203-77367203

T

C

exonic

Unknown

nonsynonymous SNV

NM_001177310
NM_001177311
NM_017662

c.A4973G
c.A4973G
c.A4988G

p.Q1658R
p.Q1658R
p.Q1663R

18.23

0.0077

Cukier2014 E

TRPM6

7-0183-003

chr9:
77368505-77368505

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM6

AU057405

chr9:
77525773-77525773

G

A

intergenic

De novo

-

Yuen2017 G

TRPM6

AU3911302

chr9:
77467735-77467735

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM6

14696.p1

chr9:
77470438-77470438

C

T

intronic

De novo

-

Satterstrom2020 E
Zhou2022 GE

TRPM6

SP0252586

chr9:
77400899-77400899

G

A

exonic

De novo

nonsynonymous SNV

NM_001177310
NM_001177311
NM_017662

c.C2795T
c.C2795T
c.C2810T

p.A932V
p.A932V
p.A937V

7.345

3.296E-5

Trost2022 G

TRPM6

1-0569-003

chr9:
77518962-77518962

G

T

intergenic

De novo

-

Yuen2017 G

TRPM6

MT_182.4

chr9:
77475086-77475086

G

A

intronic

De novo

-

Trost2022 G

TRPM6

12908.p1

chr9:
77339567-77339567

T

G

exonic

De novo

nonsynonymous SNV

NM_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
Trost2022 G
Wilfert2021 G
Zhou2022 GE

TRPM6

SSC05274

chr9:
77407627-77407627

A

G

exonic

De novo

synonymous SNV

NM_001177310
NM_001177311
NM_017662

c.T2436C
c.T2436C
c.T2451C

p.G812G
p.G812G
p.G817G

-

Fu2022 E
Lim2017 E
Trost2022 G

TRPM6

1-1191-003

chr9:
77391705-77391705

G

A

intronic

De novo

-

Trost2022 G

TRPM6

12414.p1

chr9:
77407627-77407627

A

G

exonic

De novo

synonymous SNV

NM_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
Zhou2022 GE

TRPM6

1-0664-003A

chr9:
77400729-77400729

A

G

intronic

De novo

-

Trost2022 G

TRPM6

14448.p1

chr9:
77416901-77416901

G

T

exonic

De novo

nonsynonymous SNV

NM_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
Zhou2022 GE

TRPM6

5-5064-003

chr9:
77345433-77345433

G

A

intronic

De novo

-

Trost2022 G

TRPM6

2-0081-003

chr9:
77507708-77507708

A

C

intergenic

De novo

-

Yuen2017 G

TRPM6

14-613

chr9:
77378079-77378079

C

A

intronic

De novo

-

Trost2022 G

TRPM6

MSSNG00201-003

chr9:
77340681-77340681

C

A

intronic

De novo

-

Trost2022 G

TRPM6

AU008505

chr9:
77531458-77531458

T

C

intergenic

De novo

-

Yuen2017 G

TRPM6

AU3721301

chr9:
77342850-77342850

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM6

Lim2017:78755

chr9:
77416901-77416901

G

T

exonic

De novo

nonsynonymous SNV

NM_001177310
NM_001177311
NM_017662

c.C1907A
c.C1907A
c.C1922A

p.A636E
p.A636E
p.A641E

17.81

-

Lim2017 E

TRPM6

1-0957-003

chr9:
77494373-77494376

TATA

T

intronic

De novo

-

Trost2022 G

TRPM6

78755

chr9:
77416901-77416901

G

T

exonic

De novo

nonsynonymous SNV

NM_001177310
NM_001177311
NM_017662

c.C1907A
c.C1907A
c.C1922A

p.A636E
p.A636E
p.A641E

17.81

-

Fu2022 E
Trost2022 G

TRPM6

SSC12762

chr9:
77470438-77470438

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

TRPM6

12908_p1

chr9:
77339567-77339567

T

G

exonic

De novo

nonsynonymous SNV

NM_001177310
NM_001177311
NM_017662

c.A6016C
c.A6016C
c.A6031C

p.T2006P
p.T2006P
p.T2011P

12.22

-

Fu2022 E

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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