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Results for "PARD3B"

Variant Events: 152

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--Trost2022 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     2-1507-003chr2:
205890788-205890788
CTintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     2-1220-003chr2:
206044843-206044843
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PARD3B     3-0018-000chr2:
206434226-206434226
TCintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     AU3912301chr2:
205979337-205979337
AGintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     2-1417-003chr2:
205618343-205618343
GAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     AU1988301chr2:
206013517-206013517
AGintronicDe novo--Yuen2017 G
PARD3B     1-0054-004chr2:
205840458-205840458
CCTGAATGGintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     1-0976-003chr2:
205582725-205582725
CTintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     1-0394-003chr2:
205566604-205566604
CGintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     2-0068-003chr2:
205981695-205981695
TGintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     1-0138-003chr2:
205553626-205553626
GAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     AU2140306chr2:
205927888-205927888
AGintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     1-0547-003chr2:
205755329-205755329
GAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     M17490chr2:
205969147-205969148
TATTAintronicInherited--Stessman2017 T
PARD3B     1-0186-005chr2:
206080396-206080396
TCintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     1-0186-005chr2:
205781133-205781133
TAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     2-1436-003chr2:
206542233-206542233
GAintergenicDe novo--Yuen2017 G
PARD3B     5-0041-003chr2:
206176879-206176879
CGintronicDe novo--Trost2022 G
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
Trost2022 G
Zhou2022 GE
PARD3B     1-0701-003chr2:
206196991-206196991
ACintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     AU2292301chr2:
206323108-206323108
GTintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     2-0298-003chr2:
206507627-206507627
AACCintergenicDe 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--Trost2022 G
Yuen2016 G
Yuen2017 G
PARD3B     3-0307-000 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
PARD3B     AU030103chr2:
205562845-205562845
CTintronicDe novo--Yuen2017 G
PARD3B     2-1386-003chr2:
205503702-205503703
CTCintronicDe novo--Yuen2016 G
Yuen2017 G
PARD3B     403-09-112235chr2:
206480585-206480585
CTUTR3De novo--Satterstrom2020 E
Trost2022 G
PARD3B     1-0372-003chr2:
206247858-206247858
ACintronicDe novo--Yuen2017 G
PARD3B     5-0077-004chr2:
206127144-206127144
GAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     AU2427303chr2:
205572160-205572160
TCintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     1-0526-003chr2:
205542042-205542042
ACintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     1-0582-003chr2:
206101863-206101863
GCintronicDe 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     1-0184-003chr2:
205899729-205899729
GAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     AU3859301chr2:
205992862-205992862
GTintronicDe novo--Trost2022 G
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
Zhou2022 GE
PARD3B     2-1251-003chr2:
206388113-206388113
GAintronicDe novo--Trost2022 G
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  Paternalnonframeshift deletion, frameshift 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--Trost2022 G
Yuen2017 G
PARD3B     3-0428-000chr2:
206464143-206464143
GCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
PARD3B     1-0482-003chr2:
206099003-206099003
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
PARD3B     AU2292302chr2:
206323108-206323108
GTintronicDe 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     1-0323-004chr2:
205970005-205970005
CTintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     1-0804-003chr2:
206258556-206258556
GAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     1-0448-003chr2:
205741907-205741907
ACintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     5-0106-003chr2:
205857181-205857181
CTintronicDe 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     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
Trost2022 G
PARD3B     AU2975302chr2:
205904217-205904217
GAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     AU2100302chr2:
206162170-206162170
AGintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     1-0585-003chr2:
205571979-205571979
TCintronicDe novo--Trost2022 G
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     1-0555-003chr2:
205574149-205574149
CGintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     3-0391-000chr2:
206205381-206205381
ACintronicDe novo--Trost2022 G
Yuen2017 G
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     AU4463303chr2:
206394800-206394800
GAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     2-1287-003chr2:
205523331-205523331
GAintronicDe novo--Trost2022 G
PARD3B     2-1458-003chr2:
205537085-205537085
CGintronicDe novo--Trost2022 G
PARD3B     7-0351-004chr2:
205506661-205506661
ATintronicDe novo--Trost2022 G
PARD3B     AU3124302chr2:
206330234-206330234
CTintronicDe novo--Yuen2017 G
PARD3B     AU2817301chr2:
205515818-205515818
CTintronicDe novo--Trost2022 G
PARD3B     7-0462-004chr2:
205417588-205417588
AGintronicDe novo--Trost2022 G
PARD3B     1-0207-005chr2:
205481967-205481967
CTintronicDe novo--Trost2022 G
PARD3B     AU4463303chr2:
205429224-205429224
CTintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     REACH000058chr2:
205637875-205637875
GTintronicDe novo--Trost2022 G
PARD3B     REACH000284chr2:
205652083-205652083
TAintronicDe novo--Trost2022 G
PARD3B     1-0670-003chr2:
205599163-205599163
AGintronicDe novo--Trost2022 G
PARD3B     MSSNG00171-003chr2:
205603235-205603235
AGintronicDe novo--Trost2022 G
PARD3B     REACH000467chr2:
205588470-205588470
TCintronicDe novo--Trost2022 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     3-0666-001chr2:
205590721-205590721
GAintronicDe novo--Trost2022 G
PARD3B     3-0005-000chr2:
205548819-205548819
GTintronicDe novo--Trost2022 G
PARD3B     2-1823-003chr2:
205582268-205582268
GAintronicDe novo--Trost2022 G
PARD3B     2-1528-003chr2:
205794075-205794075
GAintronicDe novo--Trost2022 G
PARD3B     MSSNG00430-003chr2:
205801582-205801582
GAintronicDe novo--Trost2022 G
PARD3B     2-1254-003chr2:
205972296-205972296
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PARD3B     5-0001-003chr2:
205742385-205742385
AGintronicDe novo--Trost2022 G
PARD3B     2-1605-004chr2:
205617276-205617276
TAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     1-0088-003chr2:
205747459-205747459
TCintronicDe novo--Trost2022 G
PARD3B     1-1036-003chr2:
205700538-205700538
GCintronicDe novo--Trost2022 G
PARD3B     2-0307-003chr2:
205702797-205702799
TGAAGGintronicDe novo--Trost2022 G
PARD3B     1-0054-003chr2:
205840458-205840458
CCTGAATGGintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     MSSNG00055-003chr2:
205688086-205688086
TAintronicDe novo--Trost2022 G
PARD3B     2-1451-004chr2:
206452498-206452498
CTintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     4-0073-003chr2:
205689567-205689567
CTintronicDe novo--Trost2022 G
PARD3B     2-1290-004chr2:
206257823-206257823
GAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     REACH000697chr2:
205910584-205910584
TCintronicDe novo--Trost2022 G
PARD3B     1-0565-003chr2:
206287447-206287447
GAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     5-0021-003chr2:
206037439-206037439
GAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     MT_160.4chr2:
205917825-205917825
CAintronicDe novo--Trost2022 G
PARD3B     1-0568-003chr2:
205665822-205665822
GGTTintronicDe novo--Yuen2017 G
PARD3B     AU026412chr2:
206543303-206543303
ATintergenicDe novo--Yuen2017 G
PARD3B     AU2216201chr2:
205874211-205874211
AGintronicDe novo--Trost2022 G
PARD3B     AU2283301chr2:
205877130-205877130
GTintronicDe novo--Trost2022 G
PARD3B     5-0085-003chr2:
205840822-205840822
CAintronicDe novo--Trost2022 G
PARD3B     MSSNG00029-003chr2:
205853756-205853756
GTintronicDe novo--Trost2022 G
PARD3B     AU2283301chr2:
205817379-205817379
GAintronicDe novo--Trost2022 G
PARD3B     3-0604-000chr2:
205838867-205838867
AGintronicDe novo--Trost2022 G
PARD3B     REACH000569chr2:
206007659-206007659
GGTintronicDe novo--Trost2022 G
PARD3B     MSSNG00421-009chr2:
206027540-206027540
GAintronicDe novo--Trost2022 G
PARD3B     3-0208-000chr2:
205993403-205993403
TGintronicDe novo--Trost2022 G
PARD3B     MSSNG00049-003chr2:
205997147-205997147
CAintronicDe novo--Trost2022 G
PARD3B     REACH000454chr2:
205972512-205972512
ACintronicDe novo--Trost2022 G
PARD3B     5-0002-003chr2:
205992911-205992913
CAGCintronicDe novo--Trost2022 G
PARD3B     MSSNG00399-003chr2:
205922255-205922257
CATCintronicDe novo--Trost2022 G
PARD3B     SJD_8.4chr2:
205958273-205958273
CTintronicDe novo--Trost2022 G
PARD3B     4-0062-003chr2:
206135417-206135418
GGCTintronicDe novo--Trost2022 G
PARD3B     1-0738-003chr2:
206138519-206138519
CTintronicDe novo--Trost2022 G
PARD3B     MSSNG00329-003chr2:
206080028-206080039
CCTGTAAAGTTACintronicDe novo--Trost2022 G
PARD3B     MSSNG00354-004chr2:
206095670-206095670
CTintronicDe novo--Trost2022 G
PARD3B     2-1766-003chr2:
206048152-206048152
AGintronicDe novo--Trost2022 G
PARD3B     2-0144-004chr2:
205665822-205665822
GGTTintronicDe novo--Yuen2017 G
PARD3B     SJD_34.3chr2:
206061771-206061771
GAintronicDe novo--Trost2022 G
PARD3B     7-0080-003chr2:
205414107-205414107
CTintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     MSSNG00015-003chr2:
206034740-206034740
CTintronicDe novo--Trost2022 G
PARD3B     2-1733-003chr2:
206041704-206041704
AGintronicDe novo--Trost2022 G
PARD3B     MT_35.3chr2:
206230781-206230781
CTintronicDe novo--Trost2022 G
PARD3B     2-1174-006chr2:
206232903-206232907
ATGATAintronicDe novo--Trost2022 G
PARD3B     MSSNG00378-003chr2:
206211380-206211380
TTAAGintronicDe novo--Trost2022 G
PARD3B     REACH000214chr2:
206215617-206215617
GAintronicDe novo--Trost2022 G
PARD3B     SP0147167chr2:
206166297-206166297
CCAexonicDe novoframeshift insertionNM_057177
NM_152526
NM_001302769
NM_205863
c.2296dupA
c.2317dupA
c.2503dupA
c.2503dupA
p.V765fs
p.V772fs
p.V834fs
p.V834fs
-8.324E-6Trost2022 G
PARD3B     2-1194-003chr2:
205617783-205617783
AGintronicDe novo--Yuen2017 G
PARD3B     5-0020-003chr2:
206203252-206203252
AGintronicDe novo--Trost2022 G
PARD3B     7-0438-003chr2:
206143833-206143833
GTintronicDe novo--Trost2022 G
PARD3B     7-0371-004chr2:
206165204-206165204
CTintronicDe novo--Trost2022 G
PARD3B     1-0708-003chr2:
205723740-205723747
TTATTCTCTintronicDe novo--Yuen2017 G
PARD3B     3-0199-000chr2:
206359756-206359756
AGintronicDe novo--Trost2022 G
PARD3B     AU2622301chr2:
206366613-206366613
GTintronicDe novo--Trost2022 G
PARD3B     1-0338-005chr2:
206297974-206297974
AGintronicDe novo--Trost2022 G
PARD3B     REACH000504chr2:
206341934-206341934
TAintronicDe novo--Trost2022 G
PARD3B     7-0311-003chr2:
206242641-206242641
CTintronicDe novo--Trost2022 G
PARD3B     7-0174-003chr2:
206354843-206354843
TAintronicDe novo--Trost2022 G
Yuen2017 G
PARD3B     2-0725-003chr2:
206265178-206265178
AGintronicDe novo--Trost2022 G
PARD3B     2-1174-006chr2:
206232911-206232915
AGTGGAintronicDe novo--Trost2022 G
PARD3B     MSSNG00003-003chr2:
206239376-206239376
CTintronicDe novo--Trost2022 G
PARD3B     1-1084-003chr2:
206472575-206472575
CTintronicDe novo--Trost2022 G
PARD3B     REACH000141chr2:
206457280-206457293
GTGATTAAATACAAGintronicDe novo--Trost2022 G
PARD3B     2-1774-003chr2:
206472293-206472293
CAintronicDe novo--Trost2022 G
PARD3B     3-0497-000chr2:
206417982-206417982
GAintronicDe novo--Trost2022 G
PARD3B     MT_35.3chr2:
206424569-206424569
CTintronicDe novo--Trost2022 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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