Variant Results

or

Results for "TRPV5"

Variant Events: 15

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

TRPV5

SP0097146

chr7:
142625383-142625383

G

A

intronic

De novo

-

Fu2022 E

TRPV5

12568.p1

chr7:
142634072-142634072

G

A

intergenic

De novo

-

Turner2016 G

TRPV5

1-0804-003

chr7:
142604395-142604395

T

A

downstream

De novo

-

Trost2022 G
Yuen2017 G

TRPV5

12839_p1

chr7:
142612052-142612052

T

G

exonic

De novo

nonsynonymous SNV

NM_019841

c.A1451C

p.K484T

26.0

-

Fu2022 E

TRPV5

SP0085782

chr7:
142605890-142605890

C

T

exonic

De novo

synonymous SNV

NM_019841

c.G1980A

p.Q660Q

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TRPV5

SSC05088

chr7:
142609791-142609791

C

T

exonic

De novo

nonsynonymous SNV

NM_019841

c.G1645A

p.V549M

14.74

2.471E-5

Fu2022 E
Trost2022 G

TRPV5

SP0036118

chr7:
142612488-142612488

G

T

exonic

De novo

nonsynonymous SNV

NM_019841

c.C1275A

p.F425L

19.52

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TRPV5

NDAR_INVCD337RRG_wes1

chr7:
142630397-142630397

G

A

intronic

De novo

-

8.341E-6

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

TRPV5

SP0210594

chr7:
142605794-142605794

C

T

exonic

De novo

synonymous SNV

NM_019841

c.G2076A

p.A692A

-

8.237E-6

Trost2022 G

TRPV5

DEASD_1027_001

chr7:
142609633-142609633

C

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

TRPV5

12396.p1

chr7:
142609791-142609791

C

T

exonic

De novo

nonsynonymous SNV

NM_019841

c.G1645A

p.V549M

14.74

2.471E-5

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

TRPV5

12839.p1

chr7:
142612052-142612052

T

G

exonic

De novo

nonsynonymous SNV

NM_019841

c.A1451C

p.K484T

26.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

TRPV5

12568.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G

TRPV5

mAGRE5063

chr7:
142605943-142605943

G

A

exonic

Paternal

stopgain

NM_019841

c.C1927T

p.R643X

16.06

1.664E-5

Cirnigliaro2023 G

TRPV5

SP0167157

chr7:
142626247-142626247

A

C

intronic

De novo

-

Trost2022 G

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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