Variant Results

or

Results for "PTCH1"

Variant Events: 36

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

PTCH1

A14

chr9:
98249110-98249110

A

G

intronic

De novo

-

Wu2018 G

PTCH1

2-1120-003

chr9:
98334546-98334546

T

TGG

intergenic

De novo

-

Yuen2017 G

PTCH1

iHART2661

chr9:
98244261-98244261

G

A

exonic

De novo

nonsynonymous SNV

NM_000264
NM_001083602
NM_001083603
NM_001083604
NM_001083605
NM_001083606
NM_001083607

c.C716T
c.C518T
c.C713T
c.C263T
c.C263T
c.C263T
c.C263T

p.A239V
p.A173V
p.A238V
p.A88V
p.A88V
p.A88V
p.A88V

24.7

-

Ruzzo2019 G

PTCH1

2-1341-004

chr9:
98531140-98531140

G

GGGT

intergenic

De novo

-

Yuen2017 G

PTCH1

AU003403

chr9:
98265289-98265289

C

T

intronic

De novo

-

Yuen2017 G

PTCH1

PN400383

chr9:
98209490-98209490

G

A

exonic

Unknown

nonsynonymous SNV

NM_000264
NM_001083602
NM_001083603
NM_001083604
NM_001083605
NM_001083606
NM_001083607

c.C4048T
c.C3850T
c.C4045T
c.C3595T
c.C3595T
c.C3595T
c.C3595T

p.R1350W
p.R1284W
p.R1349W
p.R1199W
p.R1199W
p.R1199W
p.R1199W

17.63

0.001

Leblond2019 E

PTCH1

PN400326

chr9:
98209490-98209490

G

A

exonic

Unknown

nonsynonymous SNV

NM_000264
NM_001083602
NM_001083603
NM_001083604
NM_001083605
NM_001083606
NM_001083607

c.C4048T
c.C3850T
c.C4045T
c.C3595T
c.C3595T
c.C3595T
c.C3595T

p.R1350W
p.R1284W
p.R1349W
p.R1199W
p.R1199W
p.R1199W
p.R1199W

17.63

0.001

Leblond2019 E

PTCH1

1-0126-003

chr9:
98287744-98287744

G

A

intergenic

De novo

-

Yuen2017 G

PTCH1

AU034903

chr9:
98480539-98480539

G

A

intergenic

De novo

-

Yuen2017 G

PTCH1

1-0570-003

chr9:
98564899-98564901

TGG

TG

intergenic

De novo

-

Yuen2017 G

PTCH1

PN400396

chr9:
98209490-98209490

G

A

exonic

Unknown

nonsynonymous SNV

NM_000264
NM_001083602
NM_001083603
NM_001083604
NM_001083605
NM_001083606
NM_001083607

c.C4048T
c.C3850T
c.C4045T
c.C3595T
c.C3595T
c.C3595T
c.C3595T

p.R1350W
p.R1284W
p.R1349W
p.R1199W
p.R1199W
p.R1199W
p.R1199W

17.63

0.001

Leblond2019 E

PTCH1

AU056803

chr9:
98251346-98251346

G

A

intronic

De novo

-

Yuen2017 G

PTCH1

1-0201-004

chr9:
98312414-98312414

G

A

intergenic

De novo

-

Yuen2017 G

PTCH1

3-0446-000

chr9:
98221922-98221922

G

A

exonic

De novo

synonymous SNV

NM_000264
NM_001083602
NM_001083603
NM_001083604
NM_001083605
NM_001083606
NM_001083607

c.C2847T
c.C2649T
c.C2844T
c.C2394T
c.C2394T
c.C2394T
c.C2394T

p.V949V
p.V883V
p.V948V
p.V798V
p.V798V
p.V798V
p.V798V

-

Yuen2016 G
Yuen2017 G

PTCH1

AU4336301

chr9:
98412349-98412349

C

T

intergenic

De novo

-

Yuen2017 G

PTCH1

1-0354-003

chr9:
98334546-98334546

T

TGG

intergenic

De novo

-

Yuen2017 G

PTCH1

AU3874301

chr9:
98469856-98469856

T

C

intergenic

De novo

-

Yuen2017 G

PTCH1

2-1644-003

chr9:
98334541-98334541

T

A

intergenic

De novo

-

Yuen2017 G

PTCH1

AU2458303

chr9:
98346659-98346659

G

A

intergenic

De novo

-

Yuen2017 G

PTCH1

2-1709-003

chr9:
98566706-98566706

A

C

intergenic

De novo

-

Yuen2017 G

PTCH1

Li2017:15087

chr9:
98211442-98211442

A

G

exonic

Unknown

nonsynonymous SNV

NM_000264
NM_001083602
NM_001083603
NM_001083604
NM_001083605
NM_001083606
NM_001083607

c.T3713C
c.T3515C
c.T3710C
c.T3260C
c.T3260C
c.T3260C
c.T3260C

p.L1238P
p.L1172P
p.L1237P
p.L1087P
p.L1087P
p.L1087P
p.L1087P

17.76

-

Li2017 T

PTCH1

1-0406-003

chr9:
98543184-98543184

T

C

intergenic

De novo

-

Yuen2017 G

PTCH1

PN400486

chr9:
98209582-98209582

C

T

exonic

Unknown

nonsynonymous SNV

NM_000264
NM_001083602
NM_001083603
NM_001083604
NM_001083605
NM_001083606
NM_001083607

c.G3956A
c.G3758A
c.G3953A
c.G3503A
c.G3503A
c.G3503A
c.G3503A

p.R1319H
p.R1253H
p.R1318H
p.R1168H
p.R1168H
p.R1168H
p.R1168H

29.3

1.732E-5

Leblond2019 E

PTCH1

1-0401-003

chr9:
98511203-98511203

A

G

intergenic

De novo

-

Yuen2017 G

PTCH1

1-0901-003

chr9:
98315118-98315118

T

TAG

intergenic

De novo

-

Yuen2017 G

PTCH1

SSC09614

chr9:
98229669-98229669

G

A

exonic

De novo

synonymous SNV

NM_000264
NM_001083602
NM_001083603
NM_001083604
NM_001083605
NM_001083606
NM_001083607

c.C2289T
c.C2091T
c.C2286T
c.C1836T
c.C1836T
c.C1836T
c.C1836T

p.V763V
p.V697V
p.V762V
p.V612V
p.V612V
p.V612V
p.V612V

-

Lim2017 E

PTCH1

5-0030-003

chr9:
98541027-98541031

TGAAG

T

intergenic

De novo

-

Yuen2017 G

PTCH1

1-0551-004

chr9:
98524104-98524104

C

T

intergenic

De novo

-

Yuen2017 G

PTCH1

2-0214-003

chr9:
98319717-98319717

C

CAACACAACCACACAACATCACACAGCGA

intergenic

De novo

-

Yuen2017 G

PTCH1

13991.p1

chr9:
98229669-98229669

G

A

exonic

De novo

synonymous SNV

NM_000264
NM_001083602
NM_001083603
NM_001083604
NM_001083605
NM_001083606
NM_001083607

c.C2289T
c.C2091T
c.C2286T
c.C1836T
c.C1836T
c.C1836T
c.C1836T

p.V763V
p.V697V
p.V762V
p.V612V
p.V612V
p.V612V
p.V612V

-

Iossifov2014 E
Kosmicki2017 E

PTCH1

JASD_Fam0130

chr9:
98239927-98239927

C

T

exonic

De novo

nonsynonymous SNV

NM_000264
NM_001083602
NM_001083603
NM_001083604
NM_001083605
NM_001083606
NM_001083607

c.G1405A
c.G1207A
c.G1402A
c.G952A
c.G952A
c.G952A
c.G952A

p.V469M
p.V403M
p.V468M
p.V318M
p.V318M
p.V318M
p.V318M

32.0

-

Takata2018 E

PTCH1

1-0551-003

chr9:
98323631-98323631

A

G

intergenic

De novo

-

Yuen2017 G

PTCH1

2-0144-003

chr9:
98475669-98475669

C

T

intergenic

De novo

-

Yuen2017 G

PTCH1

2-1116-003

chr9:
98380949-98380949

C

T

intergenic

De novo

-

Yuen2017 G

PTCH1

7-0242-003

chr9:
98482651-98482651

C

T

intergenic

De novo

-

Yuen2017 G

PTCH1

ASC_CA_99_A

chr9:
98212075-98212075

C

T

intronic

De novo

-

Satterstrom2020 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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