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Results for "PTPRD"

Variant Events: 166

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
PTPRD     2-1153-003chr9:
8674137-8674137
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     AU3915301chr9:
8539813-8539813
CGintronicDe novo--Yuen2017 G
PTPRD     AU2140305chr9:
9599272-9599272
CTintronicDe novo--Yuen2017 G
PTPRD     PN400117chr9:
8340408-8340408
GAexonicUnknownnonsynonymous SNVNM_001171025
NM_130393
NM_001040712
NM_130391
NM_130392
NM_002839
c.C3967T
c.C3940T
c.C3958T
c.C3967T
c.C3970T
c.C5188T
p.R1323W
p.R1314W
p.R1320W
p.R1323W
p.R1324W
p.R1730W
18.521.655E-5Leblond2019 E
PTPRD     1-0286-004chr9:
8528014-8528014
CGintronicDe novo--Yuen2017 G
PTPRD     AU4219302chr9:
9953669-9953669
TGintronicDe novo--Yuen2017 G
PTPRD     1-0092-004chr9:
10367296-10367296
CAintronicDe novo--Yuen2017 G
PTPRD     7-0249-004chr9:
8878167-8878167
CTintronicDe novo--Yuen2017 G
PTPRD     AU073006chr9:
9455897-9455897
TCintronicDe novo--Yuen2017 G
PTPRD     7-0249-004chr9:
9968934-9968934
CGintronicDe novo--Yuen2017 G
PTPRD     1-0139-003chr9:
9499055-9499055
TCintronicDe novo--Yuen2017 G
PTPRD     1-0290-003chr9:
10081448-10081448
TAintronicDe novo--Yuen2017 G
PTPRD     63-449chr9:
9674565-9674565
CTintronicDe novo--Michaelson2012 G
PTPRD     AU3638302chr9:
9610162-9610162
GCintronicDe novo--Yuen2017 G
PTPRD     7-0044-003chr9:
10381893-10381893
GAintronicDe novo--Yuen2017 G
PTPRD     AU3638302chr9:
9612238-9612238
GAintronicDe novo--Yuen2017 G
PTPRD     AU3648301chr9:
10272146-10272146
TGintronicDe novo--Yuen2017 G
PTPRD     A8chr9:
9570672-9570672
CAintronicDe novo--Wu2018 G
PTPRD     74-0352chr9:
9605254-9605254
AGintronicDe novo--Michaelson2012 G
PTPRD     1-0259-003chr9:
8554572-8554572
CAintronicDe novo--Yuen2017 G
PTPRD     2-1511-003chr9:
8374581-8374581
CTintronicDe novo--Yuen2017 G
PTPRD     AU1698302chr9:
8804098-8804098
GTintronicDe novo--Yuen2017 G
PTPRD     7-0151-003chr9:
9542979-9542979
TCintronicDe novo--Yuen2017 G
PTPRD     1-0627-007chr9:
9621672-9621672
AGintronicDe novo--Yuen2017 G
PTPRD     7-0143-003chr9:
8704287-8704287
CTintronicDe novo--Yuen2017 G
PTPRD     2-1526-003chr9:
8881154-8881154
CGintronicDe novo--Yuen2017 G
PTPRD     AU3765303chr9:
10497991-10497991
TCintronicDe novo--Yuen2017 G
PTPRD     7-0100-004chr9:
9860124-9860124
AGintronicDe novo--Yuen2017 G
PTPRD     AU3053301chr9:
8630212-8630212
TCintronicDe novo--Yuen2017 G
PTPRD     1-0208-003chr9:
9218234-9218234
CAintronicDe novo--Yuen2017 G
PTPRD     AU3053301chr9:
8635529-8635529
GAintronicDe novo--Yuen2017 G
PTPRD     2-0129-004chr9:
9623349-9623349
ACintronicDe novo--Yuen2017 G
PTPRD     2-1339-003chr9:
9403506-9403506
CTintronicDe novo--Yuen2017 G
PTPRD     2-1231-003chr9:
9605370-9605370
ACintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     2-1626-003chr9:
9012215-9012215
CGintronicDe novo--Yuen2017 G
PTPRD     AU3912301chr9:
9303999-9303999
AGintronicDe novo--Yuen2017 G
PTPRD     2-1250-003chr9:
10479292-10479292
TGintronicDe novo--Yuen2017 G
PTPRD     12585.p1chr9:
8872868-8872868
AGintronicDe novo--Wilfert2021 G
PTPRD     AU026604chr9:
9502466-9502466
AGintronicDe novo--Yuen2017 G
PTPRD     1-0563-004chr9:
9970418-9970418
AAGAGCCTGGCTCAAAAAAAAAAAAGAAAAAGAAGCCTintronicDe novo--Yuen2017 G
PTPRD     2-1417-003chr9:
10317980-10317980
GAintronicDe novo--Yuen2017 G
PTPRD     3C548chr9:
8484409-8484409
CAintronicDe novo--Satterstrom2020 E
PTPRD     1-0965-003chr9:
8459003-8459005
CTTCintronicDe novo--Yuen2017 G
PTPRD     2-1417-003chr9:
8602388-8602388
AGintronicDe novo--Yuen2017 G
PTPRD     AU002903chr9:
10232590-10232590
GCintronicDe novo--Yuen2017 G
PTPRD     1-0571-003chr9:
10458205-10458205
ATintronicDe novo--Yuen2017 G
PTPRD     2-1317-003chr9:
8759306-8759306
CTintronicDe novo--Yuen2017 G
PTPRD     AU4186302chr9:
8739370-8739370
TCintronicDe novo--Yuen2017 G
PTPRD     AU026604chr9:
9492435-9492435
GAintronicDe novo--Yuen2017 G
PTPRD     AU026604chr9:
9502148-9502148
TCintronicDe novo--Yuen2017 G
PTPRD     AU3903302chr9:
8855624-8855624
TCintronicDe novo--Yuen2017 G
PTPRD     AU1909304chr9:
9832881-9832888
CTTTTTTTCTTTTTTintronicDe novo--Yuen2017 G
PTPRD     2-1370-003chr9:
8866502-8866502
ATintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     AU017304chr9:
9212442-9212442
ACintronicDe novo--Yuen2017 G
PTPRD     1-0479-006chr9:
8525437-8525437
GCintronicDe novo--Yuen2017 G
PTPRD     2-0022-005chr9:
8783756-8783756
TCintronicDe novo--Yuen2017 G
PTPRD     1-0299-004chr9:
9847291-9847291
AGintronicDe novo--Yuen2017 G
PTPRD     AU2495302chr9:
10040297-10040297
TCintronicDe novo--Yuen2017 G
PTPRD     1-0479-006chr9:
9834683-9834683
AGintronicDe novo--Yuen2017 G
PTPRD     1-0004-003chr9:
10163173-10163173
TTAAAAAAAAAAAAAATAAAAAAATAAAAAAintronicDe novo--Yuen2017 G
PTPRD     1-0479-006chr9:
8528228-8528228
CAintronicDe novo--Yuen2017 G
PTPRD     2-0116-004chr9:
8845625-8845630
AAGATTAintronicDe novo--Yuen2017 G
PTPRD     13300.p1chr9:
8318911-8318915
CAGATCintronicDe novo--Werling2018 G
PTPRD     AU031203chr9:
8406516-8406516
TCintronicDe novo--Yuen2017 G
PTPRD     2-1436-003chr9:
9491845-9491845
ACintronicDe novo--Yuen2017 G
PTPRD     2-1325-003chr9:
10382102-10382102
CGintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     AU3861303chr9:
8790529-8790540
TGCCTCAGCCTCTGCCTCintronicDe novo--Yuen2017 G
PTPRD     AU4269301chr9:
8923442-8923442
CTintronicDe novo--Yuen2017 G
PTPRD     AU4060306chr9:
9498695-9498695
CGintronicDe novo--Yuen2017 G
PTPRD     AU0146302chr9:
9948394-9948394
GAintronicDe novo--Yuen2017 G
PTPRD     MT_69chr9:
8484233-8484233
GAexonicPaternalnonsynonymous SNVNM_001171025
NM_001040712
NM_130393
NM_130391
NM_130392
NM_002839
c.C2036T
c.C2057T
c.C2051T
c.C2066T
c.C2066T
c.C3299T
p.T679M
p.T686M
p.T684M
p.T689M
p.T689M
p.T1100M
18.268.237E-6Toma2013 E
PTPRD     2-1738-003chr9:
9980634-9980635
ACAintronicDe novo--Yuen2017 G
PTPRD     AU072005chr9:
8990948-8990948
CTintronicDe novo--Yuen2017 G
PTPRD     AU072005chr9:
9467665-9467665
GAintronicDe novo--Yuen2017 G
PTPRD     AU3768302chr9:
10499871-10499871
GCintronicDe novo--Yuen2017 G
PTPRD     AU3122301chr9:
9309536-9309536
TCintronicDe novo--Yuen2017 G
PTPRD     AU071703chr9:
8716308-8716308
TGintronicDe novo--Yuen2017 G
PTPRD     AU3761301chr9:
10441347-10441347
TCintronicDe novo--Yuen2017 G
PTPRD     AU072505chr9:
9495398-9495398
TCintronicDe novo--Yuen2017 G
PTPRD     AU056204chr9:
9390422-9390422
CGintronicDe novo--Yuen2017 G
PTPRD     AU4343302chr9:
8835636-8835636
CGintronicDe novo--Yuen2017 G
PTPRD     2-1194-003chr9:
8921974-8921974
AGintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     AU3888302chr9:
9465777-9465777
TCintronicDe novo--Yuen2017 G
PTPRD     7-0127-003chr9:
10435881-10435881
GTintronicDe novo--Yuen2017 G
PTPRD     AU3888302chr9:
9471471-9471471
ACintronicDe novo--Yuen2017 G
PTPRD     7-0127-003chr9:
10484207-10484207
TCintronicDe novo--Yuen2017 G
PTPRD     AU3721302chr9:
9139095-9139095
CTintronicDe novo--Yuen2017 G
PTPRD     7-0250-003chr9:
10114589-10114589
TCintronicDe novo--Yuen2017 G
PTPRD     1-0344-003chr9:
8344960-8344960
TTAACATTCAGTCTCCCCTAAAACTTAGAGTATAATAAAAAAAAAAAintronicDe novo--Yuen2017 G
PTPRD     AU4056301chr9:
10293812-10293812
CTintronicDe novo--Yuen2017 G
PTPRD     AU3794302chr9:
8322344-8322344
ATintronicDe novo--Yuen2017 G
PTPRD     1-0629-003chr9:
10393304-10393304
TCintronicDe novo--Yuen2017 G
PTPRD     1-0296-004chr9:
8460434-8460434
GAexonicDe novosynonymous SNVNM_001171025
NM_001040712
NM_130393
NM_130391
NM_130392
NM_002839
c.C2589T
c.C2610T
c.C2604T
c.C2619T
c.C2619T
c.C3852T
p.V863V
p.V870V
p.V868V
p.V873V
p.V873V
p.V1284V
--Yuen2017 G
PTPRD     AU043804chr9:
8586053-8586053
GGCintronicDe novo--Yuen2017 G
PTPRD     AU3859301chr9:
9455276-9455276
CTintronicDe novo--Yuen2017 G
PTPRD     1-0489-003chr9:
9239346-9239346
AGintronicDe novo--Yuen2017 G
PTPRD     2-1272-003chr9:
8545327-8545327
AGintronicDe novo--Yuen2016 G
PTPRD     AU4027306chr9:
8756856-8756856
CAintronicDe novo--Yuen2017 G
PTPRD     1-0898-003chr9:
8714758-8714758
CTintronicDe novo--Yuen2017 G
PTPRD     1-0898-003chr9:
8484797-8484800
ATTTATTintronicDe novo--Yuen2017 G
PTPRD     5-0099-003chr9:
9379343-9379343
TCintronicDe novo--Yuen2017 G
PTPRD     1-0190-003chr9:
9058903-9058903
GTintronicDe novo--Yuen2017 G
PTPRD     AU1764301chr9:
9028829-9028829
GAintronicDe novo--Yuen2017 G
PTPRD     AU3702306chr9:
8348235-8348235
AGintronicDe novo--Yuen2017 G
PTPRD     2-1137-003chr9:
9446882-9446882
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     2-1709-003chr9:
9832425-9832425
TGintronicDe novo--Yuen2017 G
PTPRD     AU4310301chr9:
10610839-10610839
CAintronicDe novo--Yuen2017 G
PTPRD     1-0995-003chr9:
9183610-9183610
CAintronicDe novo--Yuen2017 G
PTPRD     1-0210-004chr9:
8749235-8749235
GAintronicDe novo--Yuen2017 G
PTPRD     2-0145-004chr9:
9248384-9248384
GAintronicDe novo--Yuen2017 G
PTPRD     5-0133-003chr9:
10424969-10424969
CTintronicDe novo--Yuen2017 G
PTPRD     2-1278-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
PTPRD     7-0035-003chr9:
9205915-9205915
GCintronicDe novo--Yuen2017 G
PTPRD     2-1736-003chr9:
10423357-10423357
CTintronicDe novo--Yuen2017 G
PTPRD     7-0179-003chr9:
10247937-10247937
TCintronicDe novo--Yuen2017 G
PTPRD     AU3777301chr9:
9824967-9824967
CTintronicDe novo--Yuen2017 G
PTPRD     1-0112-004chr9:
9747543-9747543
TTGintronicDe novo--Yuen2017 G
PTPRD     2-1266-003chr9:
9187603-9187618
CCTCTCTCTCTCTCTCCCTCTCTCTCTCTCintronicDe novo--Yuen2017 G
PTPRD     2-1338-003chr9:
10490343-10490343
CAintronicDe novo--Yuen2017 G
PTPRD     AU3761302chr9:
8854614-8854614
TCintronicDe novo--Yuen2017 G
PTPRD     1-0656-003chr9:
9925433-9925433
CTintronicDe novo--Yuen2017 G
PTPRD     13951.p1chr9:
8485615-8485615
CTintronicDe novo--Turner2016 G
PTPRD     11341.p1chr9:
10411636-10411636
AGintronicDe novo--Turner2016 G
PTPRD     2-1132-003chr9:
10289928-10289928
GCintronicDe novo--Yuen2017 G
PTPRD     AU4093301chr9:
8729108-8729108
AGintronicDe novo--Yuen2017 G
PTPRD     2-1132-003chr9:
10237425-10237425
CTintronicDe novo--Yuen2017 G
PTPRD     A20chr9:
9805480-9805480
TAintronicDe novo--Wu2018 G
PTPRD     2-1132-003chr9:
10236526-10236526
CGintronicDe novo--Yuen2017 G
PTPRD     AU072904chr9:
9892739-9892739
CTintronicDe novo--Yuen2017 G
PTPRD     2-0307-004chr9:
8400811-8400815
TACTCTintronicDe novo--Yuen2017 G
PTPRD     AU3839303chr9:
9034279-9034279
GTintronicDe novo--Yuen2017 G
PTPRD     1-0073-003chr9:
9272888-9272888
AGintronicDe novo--Yuen2017 G
PTPRD     2-1383-003chr9:
10466027-10466027
GAintronicDe novo--Yuen2017 G
PTPRD     AU3635301chr9:
9132030-9132030
CGintronicDe novo--Yuen2017 G
PTPRD     2-1107-003chr9:
8503672-8503672
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     5-0061-003chr9:
10136685-10136685
ACintronicDe novo--Yuen2017 G
PTPRD     1-0973-003chr9:
9158652-9158652
CTintronicDe novo--Yuen2017 G
PTPRD     1-0973-003chr9:
9151932-9151932
CGintronicDe novo--Yuen2017 G
PTPRD     AU079605chr9:
8441608-8441608
TCintronicDe novo--Yuen2017 G
PTPRD     AU050910chr9:
9549648-9549648
CTintronicDe novo--Yuen2017 G
PTPRD     2-1451-004chr9:
8592068-8592068
AGintronicDe novo--Yuen2017 G
PTPRD     AU2427301chr9:
9703148-9703148
TCintronicDe novo--Yuen2017 G
PTPRD     2-1451-004chr9:
8575934-8575934
CGintronicDe novo--Yuen2017 G
PTPRD     AU3057302chr9:
9834546-9834546
TAintronicDe novo--Yuen2017 G
PTPRD     2-1254-003chr9:
10165595-10165595
TCintronicDe novo--Yuen2016 G
PTPRD     2-1317-003chr9:
8752926-8752926
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     2-1317-003chr9:
8773288-8773288
CGintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     G01-GEA-304-HIchr9:
8317976-8317976
ATintronicDe novo--Satterstrom2020 E
PTPRD     1-0054-003chr9:
10554846-10554846
GCintronicDe novo--Yuen2017 G
PTPRD     2-1317-003chr9:
9018770-9018770
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     1-0054-003chr9:
10550113-10550113
TCintronicDe novo--Yuen2017 G
PTPRD     2-1317-003chr9:
9019952-9019952
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     2-1317-003chr9:
8781286-8781286
CGintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     2-1317-003chr9:
9005185-9005185
GTintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     2-1369-003chr9:
10164412-10164412
AGintronicDe novo--Yuen2016 G
PTPRD     1-0054-003chr9:
10556263-10556263
GCintronicDe novo--Yuen2017 G
PTPRD     2-1444-003chr9:
8632005-8632005
TCintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRD     1-0841-003chr9:
9424533-9424533
AGintronicDe novo--Yuen2017 G
PTPRD     A32chr9:
9884091-9884091
GAintronicDe novo--Wu2018 G
PTPRD     2-1350-003chr9:
9992199-9992199
AAACCintronicDe novo--Yuen2017 G
PTPRD     1-0459-004chr9:
8757996-8757996
TCintronicDe novo--Yuen2017 G
PTPRD     7-0024-005chr9:
9142530-9142531
TGTintronicDe novo--Yuen2017 G
PTPRD     AU061104chr9:
9196024-9196024
CTintronicDe novo--Yuen2017 G
PTPRD     AU072504chr9:
8766689-8766694
CCACTACintronicDe novo--Yuen2017 G
PTPRD     AU3951302chr9:
10595522-10595522
GCintronicDe novo--Yuen2017 G
PTPRD     AU3951302chr9:
10598195-10598195
ACintronicDe novo--Yuen2017 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 notesView
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