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Results for "PARD3B"

Variant Events: 85

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
PARD3B     AU3076302chr2:
205819012-205819012
AGintronicDe novo--Yuen2017 G
PARD3B     212-21035-1chr2:
206057978-206057978
ATexonicPaternalstopgainNM_152526
NM_001302769
NM_057177
NM_205863
c.A1888T
c.A2074T
c.A2074T
c.A2074T
p.R630X
p.R692X
p.R692X
p.R692X
39.0-Stessman2017 T
PARD3B     2-1329-003chr2:
205867642-205867642
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PARD3B     08C74095chr2:
206058041-206058041
CTexonicUnknownnonsynonymous SNVNM_152526
NM_001302769
NM_057177
NM_205863
c.C1951T
c.C2137T
c.C2137T
c.C2137T
p.L651F
p.L713F
p.L713F
p.L713F
22.1-Stessman2017 T
PARD3B     1-0323-004chr2:
205970005-205970005
CTintronicDe novo--Yuen2017 G
PARD3B     1-0804-003chr2:
206258556-206258556
GAintronicDe novo--Yuen2017 G
PARD3B     2-1507-003chr2:
205890788-205890788
CTintronicDe novo--Yuen2017 G
PARD3B     1-0448-003chr2:
205741907-205741907
ACintronicDe novo--Yuen2017 G
PARD3B     5-0106-003chr2:
205857181-205857181
CTintronicDe novo--Yuen2017 G
PARD3B     2-1220-003chr2:
206044843-206044843
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PARD3B     3-0018-000chr2:
206434226-206434226
TCintronicDe novo--Yuen2017 G
PARD3B     1-0395-003chr2:
205665822-205665822
GGTTintronicDe novo--Yuen2017 G
PARD3B     03C16945chr2:
206057982-206057983
CTCexonicDe novoframeshift deletionNM_152526
NM_001302769
NM_057177
NM_205863
c.1893delT
c.2079delT
c.2079delT
c.2079delT
p.S631fs
p.S693fs
p.S693fs
p.S693fs
--Stessman2017 T
PARD3B     M23278chr2:
206023530-206023530
GAexonicMaternalnonsynonymous SNVNM_001302769
NM_057177
NM_205863
c.G1519A
c.G1519A
c.G1519A
p.A507T
p.A507T
p.A507T
35.08.281E-6Guo2018 T
Wang2016 T
PARD3B     AU3912301chr2:
205979337-205979337
AGintronicDe novo--Yuen2017 G
PARD3B     SSC09687chr2:
206480234-206480234
CGexonicDe novostopgainNM_057177
NM_152526
NM_205863
NM_001302769
c.C3108G
c.C3129G
c.C3012G
c.C3315G
p.Y1036X
p.Y1043X
p.Y1004X
p.Y1105X
36.0-Lim2017 E
PARD3B     2-1417-003chr2:
205618343-205618343
GAintronicDe novo--Yuen2017 G
PARD3B     AU1988301chr2:
206013517-206013517
AGintronicDe novo--Yuen2017 G
PARD3B     AU2975302chr2:
205904217-205904217
GAintronicDe novo--Yuen2017 G
PARD3B     1-0054-004chr2:
205840458-205840458
CCTGAATGGintronicDe novo--Yuen2017 G
PARD3B     1-0976-003chr2:
205582725-205582725
CTintronicDe novo--Yuen2017 G
PARD3B     AU2100302chr2:
206162170-206162170
AGintronicDe novo--Yuen2017 G
PARD3B     1-0394-003chr2:
205566604-205566604
CGintronicDe novo--Yuen2017 G
PARD3B     2-0068-003chr2:
205981695-205981695
TGintronicDe novo--Yuen2017 G
PARD3B     1-0138-003chr2:
205553626-205553626
GAintronicDe novo--Yuen2017 G
PARD3B     AU2140306chr2:
205927888-205927888
AGintronicDe novo--Yuen2017 G
PARD3B     1-0585-003chr2:
205571979-205571979
TCintronicDe novo--Yuen2017 G
PARD3B     215-13254-2803chr2:
206480386-206480386
GCexonicUnknownnonsynonymous SNVNM_057177
NM_152526
NM_205863
NM_001302769
c.G3260C
c.G3281C
c.G3164C
c.G3467C
p.R1087P
p.R1094P
p.R1055P
p.R1156P
15.998.293E-6Stessman2017 T
PARD3B     1-0547-003chr2:
205755329-205755329
GAintronicDe novo--Yuen2017 G
PARD3B     M17490chr2:
205969147-205969148
TATTAintronicInherited--Stessman2017 T
PARD3B     1-0186-005chr2:
206080396-206080396
TCintronicDe novo--Yuen2017 G
PARD3B     1-0186-005chr2:
205781133-205781133
TAintronicDe novo--Yuen2017 G
PARD3B     2-1436-003chr2:
206542233-206542233
GAintergenicDe novo--Yuen2017 G
PARD3B     5-0041-003chr2:
206176879-206176879
CGintronicDe novo--Yuen2017 G
PARD3B     1-0555-003chr2:
205574149-205574149
CGintronicDe novo--Yuen2017 G
PARD3B     3-0391-000chr2:
206205381-206205381
ACintronicDe novo--Yuen2017 G
PARD3B     SP0050898chr2:
206165375-206165375
GAexonicDe novosynonymous SNVNM_152526
NM_001302769
NM_205863
c.G2121A
c.G2307A
c.G2307A
p.P707P
p.P769P
p.P769P
--Fu2022 E
PARD3B     A24chr2:
206307738-206307738
ATintronicDe novo--Wu2018 G
PARD3B     GX0312.p1chr2:
205990451-205990451
CTexonicPaternalnonsynonymous SNVNM_001302769
NM_057177
NM_152526
NM_205863
c.C1424T
c.C1424T
c.C1424T
c.C1424T
p.P475L
p.P475L
p.P475L
p.P475L
32.08.298E-6Guo2018 T
PARD3B     1-0701-003chr2:
206196991-206196991
ACintronicDe novo--Yuen2017 G
PARD3B     AU4463303chr2:
206394800-206394800
GAintronicDe novo--Yuen2017 G
PARD3B     AU2292301chr2:
206323108-206323108
GTintronicDe novo--Yuen2017 G
PARD3B     2-0298-003chr2:
206507627-206507627
AACCintergenicDe novo--Yuen2017 G
PARD3B     AU3124302chr2:
206330234-206330234
CTintronicDe novo--Yuen2017 G
PARD3B     AU4463303chr2:
205429224-205429224
CTintronicDe novo--Yuen2017 G
PARD3B     1-0344-003chr2:
205666926-205666926
TAintronicDe novo--Yuen2017 G
PARD3B     M20250chr2:
205550908-205550908
CTexonicUnknownnonsynonymous SNVNM_001302769
NM_057177
NM_152526
NM_205863
c.C125T
c.C125T
c.C125T
c.C125T
p.P42L
p.P42L
p.P42L
p.P42L
19.36-Stessman2017 T
PARD3B     2-1441-003chr2:
205527781-205527781
AGintronicDe novo--Yuen2016 G
Yuen2017 G
PARD3B     M16241chr2:
206037007-206037007
GAexonicInheritednonsynonymous SNVNM_152526
NM_001302769
NM_057177
NM_205863
c.G1507A
c.G1693A
c.G1693A
c.G1693A
p.E503K
p.E565K
p.E565K
p.E565K
31.04.141E-5Wang2016 T
PARD3B     3-0307-000chr2:
206091027-206091029
GTTGTintronicDe novo--Yuen2017 G
PARD3B     AU030103chr2:
205562845-205562845
CTintronicDe novo--Yuen2017 G
PARD3B     2-1254-003chr2:
205972296-205972296
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PARD3B     2-1386-003chr2:
205503702-205503703
CTCintronicDe novo--Yuen2016 G
Yuen2017 G
PARD3B     2-1605-004chr2:
205617276-205617276
TAintronicDe novo--Yuen2017 G
PARD3B     403-09-112235chr2:
206480585-206480585
CTUTR3De novo--Satterstrom2020 E
PARD3B     1-0054-003chr2:
205840458-205840458
CCTGAATGGintronicDe novo--Yuen2017 G
PARD3B     1-0372-003chr2:
206247858-206247858
ACintronicDe novo--Yuen2017 G
PARD3B     5-0077-004chr2:
206127144-206127144
GAintronicDe novo--Yuen2017 G
PARD3B     2-1451-004chr2:
206452498-206452498
CTintronicDe novo--Yuen2017 G
PARD3B     2-1290-004chr2:
206257823-206257823
GAintronicDe novo--Yuen2017 G
PARD3B     AU2427303chr2:
205572160-205572160
TCintronicDe novo--Yuen2017 G
PARD3B     1-0526-003chr2:
205542042-205542042
ACintronicDe novo--Yuen2017 G
PARD3B     1-0565-003chr2:
206287447-206287447
GAintronicDe novo--Yuen2017 G
PARD3B     5-0021-003chr2:
206037439-206037439
GAintronicDe novo--Yuen2017 G
PARD3B     1-0568-003chr2:
205665822-205665822
GGTTintronicDe novo--Yuen2017 G
PARD3B     1-0582-003chr2:
206101863-206101863
GCintronicDe novo--Yuen2017 G
PARD3B     AU026412chr2:
206543303-206543303
ATintergenicDe novo--Yuen2017 G
PARD3B     2-0244-003chr2:
205738734-205738734
CTintronicDe novo--Yuen2017 G
PARD3B     1-0651-003chr2:
206535628-206535628
CGintergenicDe novo--Yuen2017 G
PARD3B     2-1605-003chr2:
205665822-205665822
GGTTintronicDe novo--Yuen2017 G
PARD3B     2-0144-004chr2:
205665822-205665822
GGTTintronicDe novo--Yuen2017 G
PARD3B     7-0080-003chr2:
205414107-205414107
CTintronicDe novo--Yuen2017 G
PARD3B     1-0184-003chr2:
205899729-205899729
GAintronicDe novo--Yuen2017 G
PARD3B     2-1194-003chr2:
205617783-205617783
AGintronicDe novo--Yuen2017 G
PARD3B     AU3859301chr2:
205992862-205992862
GTintronicDe novo--Yuen2017 G
PARD3B     1-0708-003chr2:
205723740-205723747
TTATTCTCTintronicDe novo--Yuen2017 G
PARD3B     13982.p1chr2:
206480234-206480234
CGexonicDe novostopgainNM_057177
NM_152526
NM_205863
NM_001302769
c.C3108G
c.C3129G
c.C3012G
c.C3315G
p.Y1036X
p.Y1043X
p.Y1004X
p.Y1105X
36.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PARD3B     7-0174-003chr2:
206354843-206354843
TAintronicDe novo--Yuen2017 G
PARD3B     2-1251-003chr2:
206388113-206388113
GAintronicDe novo--Yuen2017 G
PARD3B     M20709 Complex Event; expand row to view variants  Paternalsplicing--Guo2018 T
Stessman2017 T
Wang2016 T
PARD3B     M14996 Complex Event; expand row to view variants  Paternalframeshift deletion, nonframeshift deletionNM_001302769
NM_057177
NM_152526
NM_205863
NM_001302769
NM_057177
NM_152526
NM_205863
c.597_598del
c.597_598del
c.597_598del
c.597_598del
c.595_597del
c.595_597del
c.595_597del
c.595_597del
p.D199fs
p.D199fs
p.D199fs
p.D199fs
p.199_199del
p.199_199del
p.199_199del
p.199_199del
--Guo2018 T
Stessman2017 T
Wang2016 T
PARD3B     AU2525302chr2:
205952054-205952054
AGintronicDe novo--Yuen2017 G
PARD3B     3-0428-000chr2:
206464143-206464143
GCintronicDe novo--Yuen2016 G
Yuen2017 G
PARD3B     1-0482-003chr2:
206099003-206099003
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PARD3B     AU2292302chr2:
206323108-206323108
GTintronicDe novo--Yuen2017 G
Source Variant Information

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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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