Variant Results

or

Results for "KIAA1217"

Variant Events: 109

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

KIAA1217

5-1042-003

chr10:
24750584-24750584

T

C

intronic

De novo

-

Trost2022 G

KIAA1217

7-0227-003

chr10:
24766217-24766217

T

G

intronic

De novo

-

Trost2022 G

KIAA1217

7-0199-003

chr10:
24736575-24736575

C

G

intronic

De novo

-

Trost2022 G

KIAA1217

2-1370-003

chr10:
24802273-24802273

T

C

exonic

De novo

nonsynonymous SNV

NM_001282769
NM_001282770
NM_001282767
NM_001282768
NM_019590
NM_001098500

c.T1136C
c.T1136C
c.T1982C
c.T1982C
c.T2087C
c.T1847C

p.L379P
p.L379P
p.L661P
p.L661P
p.L696P
p.L616P

15.45

-

Jiang2013 G
Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

KIAA1217

1-0806-003

chr10:
24775367-24775367

T

A

intronic

De novo

-

Yuen2017 G

KIAA1217

7-0199-003

chr10:
24737182-24737182

G

C

intronic

De novo

-

Trost2022 G

KIAA1217

MSSNG00395-003

chr10:
24716759-24716759

G

A

intronic

De novo

-

Trost2022 G

KIAA1217

AU061104

chr10:
24818526-24818526

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

SJD_66.3

chr10:
24720778-24720778

T

C

intronic

De novo

-

Trost2022 G

KIAA1217

10-0010-003

chr10:
24664873-24664873

G

A

intronic

De novo

-

Trost2022 G

KIAA1217

MSSNG00384-003

chr10:
24703503-24703503

A

G

intronic

De novo

-

Trost2022 G

KIAA1217

1-0219-003

chr10:
24830126-24830133

TCAATTAT

GCCCGGCC

intronic

De novo

-

Trost2022 G

KIAA1217

1-0595-004

chr10:
24830126-24830133

TCAATTAT

GCCCGGCC

intronic

De novo

-

Trost2022 G

KIAA1217

1-0079-008

chr10:
24830122-24830123

AA

CGTGAGCCACC

intronic

De novo

-

Trost2022 G

KIAA1217

1-0595-004

chr10:
24830122-24830123

AA

CGTGAGCCACC

intronic

De novo

-

Trost2022 G

KIAA1217

AU2237301

chr10:
24814790-24814790

G

A

intronic

De novo

-

Trost2022 G

KIAA1217

3-0031-000

chr10:
24823198-24823198

G

A

intronic

De novo

-

Trost2022 G

KIAA1217

7-0441-003

chr10:
24766954-24766954

T

C

intronic

De novo

-

Trost2022 G

KIAA1217

AU4223302

chr10:
24809443-24809443

A

G

intronic

De novo

-

Trost2022 G

KIAA1217

1-0299-003

chr10:
24830126-24830133

TCAATTAT

GCCCGGCC

intronic

De novo

-

Trost2022 G

KIAA1217

1-0079-008

chr10:
24830126-24830133

TCAATTAT

GCCCGGCC

intronic

De novo

-

Trost2022 G

KIAA1217

1-0925-003

chr10:
24452914-24452914

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

2-1066-004

chr10:
24830126-24830133

TCAATTAT

GCCCGGCC

intronic

De novo

-

Trost2022 G

KIAA1217

2-1089-004

chr10:
24555887-24555887

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

mAGRE4125

chr10:
24834821-24834822

TA

T

exonic

Paternal

frameshift deletion

NM_001282768
NM_001098500
NM_001282767
NM_019590

c.3619delA
c.3364delA
c.3694delA
c.5401delA

p.K1207fs
p.K1122fs
p.K1232fs
p.K1801fs

-

Cirnigliaro2023 G

KIAA1217

7-0129-003

chr10:
24657325-24657325

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

10C105019

chr10:
24835037-24835038

AG

A

exonic

De novo

frameshift deletion

NM_001282768
NM_001098500
NM_001282767
NM_019590

c.3835delG
c.3580delG
c.3910delG
c.5617delG

p.G1279fs
p.G1194fs
p.G1304fs
p.G1873fs

-

Fu2022 E

KIAA1217

SSC04910

chr10:
24832972-24832972

C

T

exonic

De novo

synonymous SNV

NM_019590

c.C4773T

p.T1591T

-

7.441E-5

Fu2022 E
Trost2022 G

KIAA1217

2-1206-003

chr10:
24688171-24688171

T

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KIAA1217

2-1425-004

chr10:
24014816-24014816

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

A3

chr10:
24632442-24632442

T

A

intronic

De novo

-

Wu2018 G

KIAA1217

1-0025-006

chr10:
24494862-24494862

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

1-0495-003

chr10:
24646509-24646509

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

2-0256-004

chr10:
24280690-24280690

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

2-1299-003

chr10:
24034420-24034420

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

5-0073-003

chr10:
24519312-24519312

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

SP0054396

chr10:
24762515-24762515

G

A

exonic

De novo

nonsynonymous SNV

NM_001282769
NM_001282770
NM_001282767
NM_001282768
NM_019590
NM_001098500

c.G359A
c.G359A
c.G1205A
c.G1205A
c.G1205A
c.G965A

p.G120E
p.G120E
p.G402E
p.G402E
p.G402E
p.G322E

17.46

-

Fu2022 E
Trost2022 G
Zhou2022 GE

KIAA1217

1-0323-003

chr10:
24804824-24804824

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

12287.p1

chr10:
24832972-24832972

C

T

exonic

De novo

synonymous SNV

NM_019590

c.C4773T

p.T1591T

-

7.441E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

KIAA1217

AU4067303

chr10:
24154957-24154957

G

A

intronic

De novo

-

Yuen2017 G

KIAA1217

1-0994-003

chr10:
24800847-24800847

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

MSSNG00136-003

chr10:
24810704-24810704

C

A

intronic

De novo

-

8.388E-6

Trost2022 G
Zhou2022 GE

KIAA1217

2-1718-003

chr10:
24183705-24183705

C

G

intronic

De novo

-

Yuen2017 G

KIAA1217

7-0175-003

chr10:
24392425-24392425

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

11341.p1

chr10:
24126588-24126588

C

T

intronic

De novo

-

Turner2016 G

KIAA1217

1-0244-003

chr10:
24045196-24045196

T

A

intronic

De novo

-

Yuen2017 G

KIAA1217

2-1644-003

chr10:
24237911-24237911

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

1-0051-004

chr10:
24293241-24293244

CAGG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

7-0008-003

chr10:
24696226-24696226

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

1-0512-003

chr10:
24069617-24069617

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

2-1275-003

chr10:
24485772-24485772

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

1-0668-003

chr10:
24785784-24785784

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

2-1266-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

KIAA1217

AU4215302

chr10:
24110727-24110727

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

AU3154301

chr10:
24424242-24424242

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

AU027506

chr10:
24580365-24580365

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

AU3875301

chr10:
24150417-24150417

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

1-0092-003

chr10:
24287269-24287269

A

AGGTT

intronic

De novo

-

Yuen2017 G

KIAA1217

1-0539-003

chr10:
24281766-24281766

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

1-0508-003

chr10:
24092815-24092828

TACACACACACACA

TACACACACACA

intronic

De novo

-

Yuen2017 G

KIAA1217

1-0215-006

chr10:
24723252-24723252

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

AU4228301

chr10:
24576526-24576526

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

AU1848302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G
Yuen2017 G

KIAA1217

2-0142-003

chr10:
24093410-24093410

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

1-0385-003

chr10:
24412023-24412023

C

T

intronic

De novo

-

Yuen2017 G

KIAA1217

1-0292-003

chr10:
24822132-24822132

A

C

exonic

De novo

nonsynonymous SNV

NM_001282769
NM_001282770
NM_001282767
NM_001282768
NM_019590
NM_001098500

c.A2429C
c.A2429C
c.A3272C
c.A3275C
c.A3380C
c.A3140C

p.E810A
p.E810A
p.E1091A
p.E1092A
p.E1127A
p.E1047A

18.79

-

Yuen2015 G

KIAA1217

1-1086-003

chr10:
24035717-24035717

G

A

intronic

De novo

-

Trost2022 G

KIAA1217

MT_186.4

chr10:
24056139-24056139

A

G

intronic

De novo

-

Trost2022 G

KIAA1217

MSSNG00256-004

chr10:
24022560-24022560

T

C

intronic

De novo

-

Trost2022 G

KIAA1217

AU3852301

chr10:
24701992-24701992

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

3-0309-000

chr10:
24029812-24029812

G

A

intronic

De novo

-

Trost2022 G

KIAA1217

MSSNG00421-003

chr10:
24002337-24002337

C

A

intronic

De novo

-

Trost2022 G

KIAA1217

2-1246-003

chr10:
24306260-24306260

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

1-0337-003

chr10:
24153500-24153504

TCAGC

T

intronic

De novo

-

Trost2022 G

KIAA1217

MT_19.3

chr10:
24177094-24177094

G

T

intronic

De novo

-

Trost2022 G

KIAA1217

2-1522-003

chr10:
24145423-24145423

G

A

intronic

De novo

-

Trost2022 G

KIAA1217

1-0618-003

chr10:
24146074-24146074

C

T

intronic

De novo

-

Trost2022 G

KIAA1217

AU2698301

chr10:
24092309-24092309

C

G

intronic

De novo

-

Trost2022 G

KIAA1217

3-0467-000

chr10:
24098195-24098195

A

C

intronic

De novo

-

Trost2022 G

KIAA1217

5-0146-003

chr10:
24621497-24621497

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

4-0062-003

chr10:
24060218-24060219

CC

TT

intronic

De novo

-

Trost2022 G

KIAA1217

3-0702-000

chr10:
24061465-24061465

G

A

intronic

De novo

-

Trost2022 G

KIAA1217

AU2320301

chr10:
24292194-24292194

T

C

intronic

De novo

-

Trost2022 G

KIAA1217

5-5077-003

chr10:
24315225-24315225

A

T

intronic

De novo

-

Trost2022 G

KIAA1217

AU3889305

chr10:
24277190-24277190

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

MT_195.3

chr10:
24263819-24263819

C

G

intronic

De novo

-

Trost2022 G

KIAA1217

4-0049-003

chr10:
24271360-24271360

G

A

intronic

De novo

-

Trost2022 G

KIAA1217

SP0002974

chr10:
24833841-24833841

G

A

intronic

De novo

-

Fu2022 E

KIAA1217

REACH000229

chr10:
24229433-24229433

T

A

intronic

De novo

-

Trost2022 G

KIAA1217

3-0380-001

chr10:
24261935-24261935

G

A

intronic

De novo

-

Trost2022 G

KIAA1217

AU2572301

chr10:
24180858-24180858

A

T

intronic

De novo

-

Trost2022 G

KIAA1217

MSSNG00356-004

chr10:
24207811-24207811

C

A

intronic

De novo

-

Trost2022 G

KIAA1217

2-1724-003

chr10:
24376322-24376322

C

T

intronic

De novo

-

Trost2022 G

KIAA1217

MSSNG00030-004

chr10:
24383997-24383997

G

C

intronic

De novo

-

Trost2022 G

KIAA1217

MT_182.3

chr10:
24339524-24339524

G

C

intronic

De novo

-

Trost2022 G

KIAA1217

1-0158-012

chr10:
24642552-24642552

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1217

REACH000219

chr10:
24369795-24369795

G

T

intronic

De novo

-

Trost2022 G

KIAA1217

MSSNG00101-003

chr10:
24328900-24328900

C

T

intronic

De novo

-

Trost2022 G

KIAA1217

MSSNG00116-003

chr10:
24329352-24329352

A

G

intronic

De novo

-

Trost2022 G

KIAA1217

4-0090-003

chr10:
24319995-24319995

A

G

intronic

De novo

-

Trost2022 G

KIAA1217

5-5202-003

chr10:
24322449-24322449

T

C

intronic

De novo

-

Trost2022 G

KIAA1217

3-0526-000

chr10:
24625655-24625655

A

G

intronic

De novo

-

Trost2022 G

KIAA1217

MSSNG00208-003

chr10:
24631092-24631092

G

A

intronic

De novo

-

Trost2022 G

KIAA1217

5-5072-003

chr10:
24596986-24596986

T

C

intronic

De novo

-

Trost2022 G

KIAA1217

REACH000229

chr10:
24611836-24611837

TA

T

intronic

De novo

-

Trost2022 G

KIAA1217

5-5231-003

chr10:
24471834-24471834

C

T

intronic

De novo

-

Trost2022 G

KIAA1217

7-0464-003

chr10:
24500529-24500529

T

G

intronic

De novo

-

Trost2022 G

KIAA1217

AU2817301

chr10:
24428419-24428419

A

G

intronic

De novo

-

Trost2022 G

KIAA1217

MSSNG00173-003

chr10:
24452849-24452849

G

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
	More