Variant Results

or

Results for "TRPM3"

Variant Events: 157

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

TRPM3

1-0041-003

chr9:
73755344-73755344

T

C

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TRPM3

2-0018-004

chr9:
73946555-73946555

G

GAGGAGGAGAAA

intergenic

De novo

-

Yuen2017 G

TRPM3

1-0339-004

chr9:
73851102-73851102

T

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

5-0114-003

chr9:
73251013-73251013

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

1-0139-003

chr9:
73513645-73513645

A

G

intronic

De novo

-

Yuen2017 G

TRPM3

3-0169-000

chr9:
73607807-73607807

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G

TRPM3

2-1511-003

chr9:
73309458-73309458

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

1-0708-003

chr9:
73799573-73799573

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

13791.p1

chr9:
73205891-73205891

A

G

intronic

De novo

-

Satterstrom2020 E

TRPM3

2-0081-003

chr9:
73675100-73675100

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

2-0081-003

chr9:
73461758-73461758

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

1-0454-003

chr9:
73522174-73522174

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TRPM3

AU4089302

chr9:
73852690-73852690

G

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

2-0081-003

chr9:
74106346-74106346

T

TAA

intergenic

De novo

-

Yuen2017 G

TRPM3

2-0081-003

chr9:
73991216-73991216

A

G

intergenic

De novo

-

Yuen2017 G

TRPM3

2-1180-003

chr9:
73864171-73864171

T

G

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TRPM3

AU075207

chr9:
73792081-73792081

C

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

2-0012-004

chr9:
73715901-73715901

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

AU047704

chr9:
73756642-73756642

T

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

1-0551-004

chr9:
73809603-73809603

C

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

2-1182-003

chr9:
73747215-73747215

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TRPM3

1-0408-003

chr9:
74121691-74121691

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TRPM3

A3

chr9:
73433721-73433721

A

G

intronic

De novo

-

Wu2018 G

TRPM3

AU050604

chr9:
74294837-74294837

G

C

intergenic

De novo

-

Yuen2017 G

TRPM3

1-0299-004

chr9:
74234141-74234141

G

A

intergenic

De novo

-

Yuen2017 G

TRPM3

mAGRE5286

chr9:
73736200-73736200

C

T

exonic

Paternal

stopgain

NM_001007471

c.G71A

p.W24X

40.0

3.0E-4

Cirnigliaro2023 G

TRPM3

AU2569303

chr9:
73235193-73235194

TG

T

exonic

Paternal

frameshift deletion

NM_206944
NM_001007471
NM_020952
NM_206945
NM_206947
NM_024971
NM_206946

c.1402delC
c.1891delC
c.1432delC
c.1438delC
c.1477delC
c.1468delC
c.1507delC

p.H468fs
p.H631fs
p.H478fs
p.H480fs
p.H493fs
p.H490fs
p.H503fs

-

Cirnigliaro2023 G

TRPM3

1-0004-003

chr9:
74258504-74258504

G

A

intergenic

De novo

-

Yuen2017 G

TRPM3

1-0763-003

chr9:
73289432-73289432

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

AU2569301

chr9:
73235193-73235194

TG

T

exonic

Paternal

frameshift deletion

NM_206944
NM_001007471
NM_020952
NM_206945
NM_206947
NM_024971
NM_206946

c.1402delC
c.1891delC
c.1432delC
c.1438delC
c.1477delC
c.1468delC
c.1507delC

p.H468fs
p.H631fs
p.H478fs
p.H480fs
p.H493fs
p.H490fs
p.H503fs

-

Cirnigliaro2023 G

TRPM3

mAGRE1559

chr9:
73150908-73150918

TCTGGACAGTC

T

exonic

Maternal

frameshift deletion

NM_206944
NM_001007471
NM_020952
NM_206945
NM_206947
NM_024971
NM_206946

c.4586_4595del
c.5075_5084del
c.4616_4625del
c.4622_4631del
c.4661_4670del
c.4652_4661del
c.4691_4700del

p.R1529fs
p.R1692fs
p.R1539fs
p.R1541fs
p.R1554fs
p.R1551fs
p.R1564fs

-

Cirnigliaro2023 G

TRPM3

AU2495302

chr9:
74022793-74022793

T

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

1-0354-006

chr9:
73174502-73174502

G

GT

intronic

De novo

-

Yuen2017 G

TRPM3

1-0010-003

chr9:
74229355-74229355

C

T

intergenic

De novo

-

Yuen2017 G

TRPM3

1-0556-003

chr9:
73615883-73615883

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

A27

chr9:
73997571-73997571

C

G

intergenic

De novo

-

Wu2018 G

TRPM3

1-0289-003

chr9:
74106346-74106346

T

TAA

intergenic

De novo

-

Yuen2017 G

TRPM3

1-0609-003

chr9:
73619480-73619480

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

AU076705

chr9:
74091562-74091562

A

G

intergenic

De novo

-

Yuen2017 G

TRPM3

AU4426303

chr9:
73231136-73231136

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

AU3807302

chr9:
73497131-73497131

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

2-1168-003

chr9:
73306101-73306101

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TRPM3

SSC09225

chr9:
73205891-73205891

A

G

intronic

De novo

-

Trost2022 G

TRPM3

AU2109301

chr9:
73157356-73157356

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

4-0062-003

chr9:
73214631-73214633

TTG

ACT

intronic

De novo

-

Trost2022 G

TRPM3

3-0159-000

chr9:
73182806-73182806

C

T

intronic

De novo

-

Trost2022 G

TRPM3

2-1688-003

chr9:
73187332-73187332

T

A

intronic

De novo

-

Trost2022 G

TRPM3

SP0164952

chr9:
73168172-73168172

G

A

exonic

De novo

nonsynonymous SNV

NM_206944
NM_001007471
NM_020952
NM_206945
NM_206947
NM_024971
NM_206946

c.C2753T
c.C3242T
c.C2783T
c.C2789T
c.C2828T
c.C2819T
c.C2858T

p.P918L
p.P1081L
p.P928L
p.P930L
p.P943L
p.P940L
p.P953L

19.13

-

Trost2022 G

TRPM3

2-1373-003

chr9:
73873500-73873500

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TRPM3

2-1546-003

chr9:
73274831-73274831

G

GACTT

intronic

De novo

-

Trost2022 G

TRPM3

AU3951301

chr9:
73486314-73486314

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

AU1448303

chr9:
73288376-73288376

T

G

intronic

De novo

-

Trost2022 G

TRPM3

MT_188.3

chr9:
73241233-73241233

G

A

intronic

De novo

-

Trost2022 G

TRPM3

2-0214-003

chr9:
74161227-74161227

A

G

intergenic

De novo

-

Yuen2017 G

TRPM3

MSSNG00401-003

chr9:
73258096-73258096

A

G

intronic

De novo

-

Trost2022 G

TRPM3

SP0009889

chr9:
73233744-73233744

G

A

intronic

De novo

-

9.037E-6

Trost2022 G

TRPM3

MSSNG00408-003

chr9:
73236964-73236964

C

A

intronic

De novo

-

Trost2022 G

TRPM3

1-0722-003

chr9:
73217218-73217218

T

A

intronic

De novo

-

Trost2022 G

TRPM3

AU2129301

chr9:
73220357-73220363

ACACCCC

A

intronic

De novo

-

Trost2022 G

TRPM3

MSSNG00158-003

chr9:
73428757-73428757

G

A

intronic

De novo

-

Trost2022 G

TRPM3

3-0519-000

chr9:
73461256-73461256

T

C

intronic

De novo

-

8.244E-6

Trost2022 G

TRPM3

1-0464-003

chr9:
74169525-74169539

ATCTCTCTCTCTCTC

ATCTCTCTCTCTC

intergenic

De novo

-

Yuen2017 G

TRPM3

4-0040-003

chr9:
73387655-73387655

G

A

intronic

De novo

-

Trost2022 G

TRPM3

1-0224-004

chr9:
73574092-73574093

AT

A

intronic

De novo

-

Yuen2017 G

TRPM3

2-1179-003

chr9:
73411269-73411269

C

A

intronic

De novo

-

Trost2022 G

TRPM3

2-1508-003

chr9:
73874454-73874454

T

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

MSSNG00034-003

chr9:
73365159-73365159

T

G

intronic

De novo

-

Trost2022 G

TRPM3

MSSNG00432-003

chr9:
73376193-73376196

TAAG

T

intronic

De novo

-

Trost2022 G

TRPM3

MT_26.3

chr9:
73293844-73293844

C

T

intronic

De novo

-

Trost2022 G

TRPM3

AU2320301

chr9:
73308390-73308391

CT

C

intronic

De novo

-

Trost2022 G

TRPM3

REACH000678

chr9:
73524752-73524752

C

T

intronic

De novo

-

Trost2022 G

TRPM3

2-0307-003

chr9:
73456923-73456923

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

AU051504

chr9:
74238745-74238745

T

C

intergenic

De novo

-

Yuen2017 G

TRPM3

1045

chr9:
73525433-73525433

T

C

intronic

De novo

-

Trost2022 G

TRPM3

1-1008-003

chr9:
73509718-73509718

C

A

intronic

De novo

-

Trost2022 G

TRPM3

4-0062-003

chr9:
73523937-73523938

CA

AT

intronic

De novo

-

Trost2022 G

TRPM3

MSSNG00256-004

chr9:
73504362-73504362

G

T

intronic

De novo

-

Trost2022 G

TRPM3

3-0706-000A

chr9:
73505607-73505607

A

G

intronic

De novo

-

Trost2022 G

TRPM3

2-1627-003

chr9:
74166239-74166239

A

C

intergenic

De novo

-

Yuen2017 G

TRPM3

MSSNG00437-003

chr9:
73486213-73486213

C

T

intronic

De novo

-

Trost2022 G

TRPM3

MT_31.3

chr9:
73495557-73495557

T

G

intronic

De novo

-

Trost2022 G

TRPM3

1-0859-003

chr9:
73671063-73671063

C

T

intronic

De novo

-

Trost2022 G

TRPM3

1-0445-003

chr9:
73393888-73393889

CA

C

intronic

De novo

-

Yuen2017 G

TRPM3

MSSNG00204-003

chr9:
73673059-73673059

C

T

intronic

De novo

-

Trost2022 G

TRPM3

AU2604301

chr9:
73662537-73662537

C

T

intronic

De novo

-

Trost2022 G

TRPM3

3-0668-000

chr9:
73669517-73669517

A

C

intronic

De novo

-

Trost2022 G

TRPM3

2-1267-003

chr9:
73640311-73640311

C

T

intronic

De novo

-

Trost2022 G

TRPM3

1-1238-003

chr9:
73641592-73641592

C

A

intronic

De novo

-

Trost2022 G

TRPM3

2-1382-003

chr9:
73811058-73811071

CATATATATATATA

CATATATATATA

intergenic

De novo

-

Yuen2017 G

TRPM3

MSSNG00173-003

chr9:
73565671-73565671

G

A

intronic

De novo

-

Trost2022 G

TRPM3

AU2579302

chr9:
73600512-73600512

A

C

intronic

De novo

-

Trost2022 G

TRPM3

1-0068-003

chr9:
74031915-74031915

A

G

intergenic

De novo

-

Yuen2017 G

TRPM3

7-0454-003

chr9:
73766474-73766475

TA

T

intergenic

De novo

-

Trost2022 G

TRPM3

4-0073-003

chr9:
73775905-73775907

TGG

ATT

intergenic

De novo

-

Trost2022 G

TRPM3

3-0731-001A

chr9:
73755562-73755562

T

TATTC

intergenic

De novo

-

Trost2022 G

TRPM3

7-0202-003

chr9:
73759590-73759598

AGAAGAAAG

A

intergenic

De novo

-

Trost2022 G

TRPM3

1-0835-003

chr9:
73890084-73890084

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

SJD_65.3

chr9:
73702753-73702753

T

C

intronic

De novo

-

Trost2022 G

TRPM3

5-5129-003

chr9:
73753452-73753458

CCTTTTT

C

intergenic

De novo

-

Trost2022 G

TRPM3

2-1760-003

chr9:
73678225-73678225

A

T

intronic

De novo

-

Trost2022 G

TRPM3

2-1510-003

chr9:
73538759-73538774

TACACACACACACACA

TACACACACACACA

intronic

De novo

-

Yuen2017 G

TRPM3

1-1047-003

chr9:
73678614-73678614

G

A

intronic

De novo

-

Trost2022 G

TRPM3

2-1290-003

chr9:
73556078-73556078

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

1-0760-004

chr9:
73911628-73911628

T

C

intergenic

De novo

-

Trost2022 G

TRPM3

3-0284-000

chr9:
73913256-73913256

A

G

intergenic

De novo

-

Trost2022 G

TRPM3

X3N7Y_01

chr9:
73867797-73867797

C

T

intergenic

De novo

-

Trost2022 G

TRPM3

MT_182.3

chr9:
73896914-73896914

T

A

intergenic

De novo

-

Trost2022 G

TRPM3

1-0804-003

chr9:
73820396-73820396

C

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

2-1076-004

chr9:
73848839-73848839

C

T

intergenic

De novo

-

Trost2022 G

TRPM3

J4K7A_01

chr9:
73867797-73867797

C

T

intergenic

De novo

-

Trost2022 G

TRPM3

1-0435-003

chr9:
73736541-73736541

C

A

upstream

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

3-0208-000

chr9:
73841546-73841546

T

TTG

intergenic

De novo

-

Trost2022 G

TRPM3

MSSNG00102-003

chr9:
73847298-73847298

C

A

intergenic

De novo

-

Trost2022 G

TRPM3

4-0062-003

chr9:
73973636-73973636

T

A

intergenic

De novo

-

Trost2022 G

TRPM3

AU2139305

chr9:
73816350-73816350

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

MSSNG00043-003

chr9:
73986122-73986122

A

G

intergenic

De novo

-

Trost2022 G

TRPM3

7-0352-003

chr9:
73966941-73966941

G

A

intergenic

De novo

-

Trost2022 G

TRPM3

2-1371-003

chr9:
73921102-73921102

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TRPM3

4-0062-003

chr9:
73973630-73973630

G

C

intergenic

De novo

-

Trost2022 G

TRPM3

2-1751-003

chr9:
73936748-73936748

G

A

intergenic

De novo

-

Trost2022 G

TRPM3

1-1011-003

chr9:
73961151-73961151

C

T

intergenic

De novo

-

Trost2022 G

TRPM3

MSSNG00415-003

chr9:
73917575-73917575

G

A

intergenic

De novo

-

Trost2022 G

TRPM3

3-0407-000

chr9:
73935728-73935728

T

C

intergenic

De novo

-

Trost2022 G

TRPM3

1-0995-003

chr9:
73301957-73301957

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

MSSNG00256-005

chr9:
74041818-74041818

C

CT

intergenic

De novo

-

Trost2022 G

TRPM3

1-0300-003

chr9:
74254718-74254718

T

C

intergenic

De novo

-

Yuen2017 G

TRPM3

1-0300-003

chr9:
73577592-73577592

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

AU059003

chr9:
74010992-74010992

C

A

intergenic

De novo

-

Trost2022 G

TRPM3

11782_p1

chr9:
73151650-73151652

AGT

A

exonic

De novo

frameshift deletion

NM_206944
NM_001007471
NM_020952
NM_206945
NM_206947
NM_024971
NM_206946

c.3852_3853del
c.4341_4342del
c.3882_3883del
c.3888_3889del
c.3927_3928del
c.3918_3919del
c.3957_3958del

p.T1284fs
p.T1447fs
p.T1294fs
p.T1296fs
p.T1309fs
p.T1306fs
p.T1319fs

-

Fu2022 E

TRPM3

7-0465-003

chr9:
74040257-74040257

G

A

intergenic

De novo

-

Trost2022 G

TRPM3

3-0456-000B

chr9:
74000787-74000787

A

AT

intergenic

De novo

-

Trost2022 G

TRPM3

AU3905301

chr9:
74013392-74013392

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

08C73898

chr9:
73376396-73376396

G

C

intronic

De novo

0.9

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TRPM3

MSSNG00394-003

chr9:
74002072-74002072

T

C

intergenic

De novo

-

Trost2022 G

TRPM3

SP0105842

chr9:
73225462-73225462

T

G

intronic

De novo

-

Fu2022 E

TRPM3

AU4242302

chr9:
73995225-73995225

T

TA

intergenic

De novo

-

Trost2022 G

TRPM3

1-1038-003

chr9:
73999893-73999893

C

G

intergenic

De novo

-

Trost2022 G

TRPM3

SP0018381

chr9:
73442897-73442897

C

T

exonic

nonsynonymous SNV

NM_001007470
NM_001007471
NM_020952
NM_024971
NM_206944
NM_206945
NM_206946
NM_206947
NM_206948

c.G380A
c.G839A
c.G380A
c.G380A
c.G380A
c.G380A
c.G380A
c.G380A
c.G380A

p.S127N
p.S280N
p.S127N
p.S127N
p.S127N
p.S127N
p.S127N
p.S127N
p.S127N

35.0

-

Zhou2022 GE

TRPM3

AU3646301

chr9:
73475868-73475868

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

DEASD_0051_001

chr9:
73736294-73736294

A

C

UTR5

De novo

-

8.918E-6

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

TRPM3

2-1330-003

chr9:
73481681-73481681

A

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TRPM3

1-0563-003

chr9:
73523306-73523306

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

2-1066-003

chr9:
73223666-73223666

G

GACTC

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

iHART1559

chr9:
73150908-73150918

TCTGGACAGTC

T

exonic

Maternal

frameshift deletion

NM_206944
NM_001007471
NM_020952
NM_206945
NM_206947
NM_024971
NM_206946

c.4586_4595del
c.5075_5084del
c.4616_4625del
c.4622_4631del
c.4661_4670del
c.4652_4661del
c.4691_4700del

p.R1529fs
p.R1692fs
p.R1539fs
p.R1541fs
p.R1554fs
p.R1551fs
p.R1564fs

-

Ruzzo2019 G

TRPM3

2-1107-003

chr9:
73988845-73988845

A

G

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TRPM3

3-0391-000

chr9:
73687654-73687654

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

7-0012-003

chr9:
73684760-73684760

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

11782.p1

chr9:
73151650-73151652

AGT

A

exonic

De novo

frameshift deletion

NM_206944
NM_001007471
NM_020952
NM_206945
NM_206947
NM_024971
NM_206946

c.3852_3853del
c.4341_4342del
c.3882_3883del
c.3888_3889del
c.3927_3928del
c.3918_3919del
c.3957_3958del

p.T1284fs
p.T1447fs
p.T1294fs
p.T1296fs
p.T1309fs
p.T1306fs
p.T1319fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E

TRPM3

2-1131-003

chr9:
73994312-73994312

T

C

intergenic

De novo

-

Yuen2016 G

TRPM3

2-1579-003

chr9:
74139105-74139105

G

A

intergenic

De novo

-

Yuen2017 G

TRPM3

AU079605

chr9:
73895195-73895195

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

1-0054-003

chr9:
74251532-74251532

C

T

intergenic

De novo

-

Yuen2017 G

TRPM3

13393.p1

chr9:
73790005-73790005

G

A

intergenic

De novo

-

Turner2016 G

TRPM3

1-0225-003

chr9:
73881705-73881705

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

14590.p1

chr9:
74247904-74247904

C

T

intergenic

De novo

-

Turner2016 G

TRPM3

1-0232-004

chr9:
73513341-73513341

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRPM3

NP079

chr9:
73376388-73376388

T

C

intronic

De novo

-

Fu2022 E
Lim2017 E
Satterstrom2020 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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