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Exact

Results for "OBSCN"

Variant Events: 100

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
OBSCN     iHART1901chr1:
228560587-228560587		GTexonicPaternalstopgainNM_001098623
NM_001271223		c.G22108T
c.G24979T		p.E7370X
p.E8327X		65.05.69E-5Ruzzo2019 G
OBSCN     iHART1454chr1:
228540764-228540764		GAsplicingPaternalsplicing13.43-Ruzzo2019 G
OBSCN     iHART2796chr1:
228509081-228509081		CTexonicPaternalstopgainNM_001098623
NM_052843
NM_001271223		c.C14539T
c.C14539T
c.C17410T		p.Q4847X
p.Q4847X
p.Q5804X		63.0-Ruzzo2019 G
OBSCN     3-0018-000chr1:
228504573-228504573		CGexonicDe novosynonymous SNVNM_001098623
NM_052843
NM_001271223		c.C13449G
c.C13449G
c.C16320G		p.T4483T
p.T4483T
p.T5440T		--Yuen2017 G
Zhou2022 GE
OBSCN     iHART3046chr1:
228554779-228554795		AGGGAGCGAGACATCCTAexonicMaternalframeshift deletionNM_001098623
NM_001271223		c.19532_19547del
c.22403_22418del		p.R6511fs
p.R7468fs		-3.632E-5Ruzzo2019 G
OBSCN     iHART3047chr1:
228554779-228554795		AGGGAGCGAGACATCCTAexonicMaternalframeshift deletionNM_001098623
NM_001271223		c.19532_19547del
c.22403_22418del		p.R6511fs
p.R7468fs		-3.632E-5Ruzzo2019 G
OBSCN     11888.p1chr1:
228555669-228555687		ACTGCCCCAGCCATGCACCAintronicDe novo--Satterstrom2020 E
Trost2022 G
OBSCN     2-1299-003chr1:
228557824-228557824		CTintronicDe novo-2.54E-5Trost2022 G
Yuen2017 G
OBSCN     179-08-109807chr1:
228558817-228558817		CTexonicDe novononsynonymous SNVNM_001098623
NM_001271223		c.C20338T
c.C23209T		p.R6780W
p.R7737W		15.481.0E-4Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
OBSCN     13757.p1chr1:
228505699-228505699		TGexonicDe novosynonymous SNVNM_001098623
NM_052843
NM_001271223		c.T13956G
c.T13956G
c.T16827G		p.G4652G
p.G4652G
p.G5609G		-3.0E-4Satterstrom2020 E
OBSCN     SP0133844chr1:
228463768-228463768		GTintronicDe novo--Fu2022 E
Trost2022 G
OBSCN     SP0068929chr1:
228460954-228460954		CTintronicDe novo--Fu2022 E
Trost2022 G
OBSCN     SP0035152chr1:
228474831-228474831		GAintronicDe novo--Fu2022 E
OBSCN     Chen2017:97chr1:
228447223-228447223		AGexonicDe novononsynonymous SNVNM_001271223c.A4883Gp.K1628R14.64-Chen2017 E
OBSCN     SP0038407chr1:
228466803-228466804		CACintronicDe novo--Fu2022 E
OBSCN     SP0080400chr1:
228505670-228505670		CGexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.C13927G
c.C13927G
c.C16798G		p.L4643V
p.L4643V
p.L5600V		15.73-Fu2022 E
Trost2022 G
Zhou2022 GE
OBSCN     SP0046788chr1:
228564796-228564796		GAexonicDe novononsynonymous SNVNM_001098623
NM_001271223		c.G23083A
c.G25954A		p.G7695R
p.G8652R		15.145.921E-5Fu2022 E
Trost2022 G
Zhou2022 GE
OBSCN     SP0110413chr1:
228475825-228475825		CTexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.C9875T
c.C9875T
c.C11162T		p.T3292M
p.T3292M
p.T3721M		15.192.486E-5Fu2022 E
Trost2022 G
Zhou2022 GE
OBSCN     SP0033747chr1:
228563406-228563406		GAexonicDe novononsynonymous SNVNM_001098623
NM_001271223		c.G22667A
c.G25538A		p.R7556H
p.R8513H		16.752.605E-5Fu2022 E
Trost2022 G
Zhou2022 GE
OBSCN     SP0101498chr1:
228565031-228565031		CCGGACTGATintronicDe novo--Fu2022 E
OBSCN     SP0116535chr1:
228552612-228552612		CTintronicDe novo--Fu2022 E
OBSCN     SP0085357chr1:
228465566-228465566		TGintronicDe novo--Fu2022 E
OBSCN     SP0053884chr1:
228465372-228465372		GAintronicDe novo-1.101E-5Fu2022 E
Trost2022 G
Zhou2022 GE
OBSCN     SSC02395chr1:
228434310-228434310		GAexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.G3839A
c.G3839A
c.G4115A		p.C1280Y
p.C1280Y
p.C1372Y		14.12-Fu2022 E
Lim2017 E
Trost2022 G
OBSCN     SP0057074chr1:
228526125-228526125		CGintronicDe novo--Fu2022 E
OBSCN     10C104458chr1:
228434296-228434296		TGexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.T3825G
c.T3825G
c.T4101G		p.S1275R
p.S1275R
p.S1367R		6.1064.213E-5Lim2017 E
OBSCN     SP0066343chr1:
228487294-228487294		CTintronicDe novo--Fu2022 E
OBSCN     SP0089153chr1:
228547912-228547912		CTexonicDe novononsynonymous SNVNM_052843c.C19319Tp.T6440M14.191.0E-4Fu2022 E
Zhou2022 GE
OBSCN     SP0082146chr1:
228538939-228538939		TGintronicDe novo--Fu2022 E
OBSCN     1-0413-003chr1:
228563025-228563025		CGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
OBSCN     2-1294-003chr1:
228467595-228467595		CTexonicDe novosynonymous SNVNM_001098623
NM_052843
NM_001271223		c.C7470T
c.C7470T
c.C8757T		p.C2490C
p.C2490C
p.C2919C		-2.377E-5Trost2022 G
Zhou2022 GE
OBSCN     MSSNG00413-003chr1:
228464974-228464974		TCexonicDe novosynonymous SNVNM_001098623
NM_052843
NM_001271223		c.T6714C
c.T6714C
c.T7839C		p.D2238D
p.D2238D
p.D2613D		--Trost2022 G
Zhou2022 GE
OBSCN     SP0037843chr1:
228503683-228503683		CGexonicnonsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.C13148G
c.C13148G
c.C16019G		p.S4383W
p.S4383W
p.S5340W		18.71-Zhou2022 GE
OBSCN     SP0124315chr1:
228487176-228487178		CATCexonicDe novoframeshift deletionNM_001271223c.13428_13429delp.S4476fs-4.0E-4Trost2022 G
Zhou2022 GE
OBSCN     12225.p1chr1:
228401952-228401952		GGCexonicDe novoframeshift insertionNM_001098623
NM_001271223
NM_052843		c.1336_1337insC
c.1336_1337insC
c.1336_1337insC		p.V446fs
p.V446fs
p.V446fs		--Satterstrom2020 E
OBSCN     MT_89.3chr1:
228527781-228527781		GAexonicDe novosynonymous SNVNM_001098623
NM_052843
NM_001271223		c.G17394A
c.G17394A
c.G20265A		p.T5798T
p.T5798T
p.T6755T		9.8688.84E-6Trost2022 G
Zhou2022 GE
OBSCN     SP0080400chr1:
228505775-228505775		CGexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.C14032G
c.C14032G
c.C16903G		p.Q4678E
p.Q4678E
p.Q5635E		24.0-Trost2022 G
Zhou2022 GE
OBSCN     12086.p1chr1:
228566375-228566375		CTexonicnonsynonymous SNVNM_001098623
NM_001271223		c.C23786T
c.C26651T		p.P7929L
p.P8884L		14.15-Zhou2022 GE
OBSCN     MSSNG00091-003chr1:
228558810-228558810		CTexonicDe novosynonymous SNVNM_001098623
NM_001271223		c.C20331T
c.C23202T		p.G6777G
p.G7734G		4.2218.468E-5Trost2022 G
Zhou2022 GE
OBSCN     12929.p1chr1:
228553400-228553400		CTintronicDe novo--Wilfert2021 G
OBSCN     1-0497-003chr1:
228411813-228411813		GAintronicDe novo--Trost2022 G
Yuen2017 G
OBSCN     2-1391-003chr1:
228491517-228491517		AGexonicDe novononsynonymous SNVNM_001271223c.A13880Gp.Y4627C9.266-Trost2022 G
Yuen2017 G
Zhou2022 GE
OBSCN     AU4286302chr1:
228461421-228461421		GAintronicDe novo-1.816E-5Trost2022 G
Yuen2017 G
OBSCN     DEASD_0066_001chr1:
228553743-228553743		TGintronicDe novo-5.0E-4Satterstrom2020 E
Trost2022 G
OBSCN     AU3761302chr1:
228534143-228534143		CAintronicDe novo--Trost2022 G
Yuen2017 G
OBSCN     EGAN00001101028chr1:
228553743-228553743		TGintronicDe novo-5.0E-4Satterstrom2020 E
Trost2022 G
OBSCN     11226.p1chr1:
228434310-228434310		GAexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.G3839A
c.G3839A
c.G4115A		p.C1280Y
p.C1280Y
p.C1372Y		14.12-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
OBSCN     13705.p1chr1:
228509724-228509724		GAexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.G15182A
c.G15182A
c.G18053A		p.R5061H
p.R5061H
p.R6018H		11.322.013E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
OBSCN     14168.p1chr1:
228538569-228538569		GAexonicMosaic, De novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.G18344A
c.G18344A
c.G21215A		p.R6115Q
p.R6115Q
p.R7072Q		23.12.512E-5Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Zhou2022 GE
OBSCN     11397.p1chr1:
228548375-228548375		CTexonicDe novosynonymous SNVNM_052843c.C19782Tp.T6594T-9.37E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
OBSCN     3316_17auchr1:
228407385-228407385		CTintronicDe novo--Fu2022 E
OBSCN     mAGRE4753chr1:
228466583-228466587		CCACGCexonicPaternalframeshift deletionNM_001098623
NM_052843
NM_001271223		c.7054_7057del
c.7054_7057del
c.8341_8344del		p.H2352fs
p.H2352fs
p.H2781fs		-8.312E-6Cirnigliaro2023 G
OBSCN     mAGRE4752chr1:
228466583-228466587		CCACGCexonicPaternalframeshift deletionNM_001098623
NM_052843
NM_001271223		c.7054_7057del
c.7054_7057del
c.8341_8344del		p.H2352fs
p.H2352fs
p.H2781fs		-8.312E-6Cirnigliaro2023 G
OBSCN     mAGRE1490chr1:
228465550-228465550		CTexonicMaternalstopgainNM_001098623
NM_052843
NM_001271223		c.C6850T
c.C6850T
c.C8137T		p.R2284X
p.R2284X
p.R2713X		47.07.585E-5Cirnigliaro2023 G
OBSCN     mAGRE5337chr1:
228462278-228462278		CTexonicMaternalstopgainNM_001098623
NM_052843
NM_001271223		c.C5689T
c.C5689T
c.C6814T		p.R1897X
p.R1897X
p.R2272X		34.04.942E-5Cirnigliaro2023 G
OBSCN     ASC_CA_129_Achr1:
228553893-228553893		CTintronicDe novo-8.421E-6Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
OBSCN     AU050910chr1:
228579473-228579473		GAintergenicDe novo--Yuen2017 G
OBSCN     MSSNG00022-003chr1:
228411714-228411714		CGintronicDe novo--Trost2022 G
OBSCN     mAGRE2795chr1:
228509081-228509081		CTexonicPaternalstopgainNM_001098623
NM_052843
NM_001271223		c.C14539T
c.C14539T
c.C17410T		p.Q4847X
p.Q4847X
p.Q5804X		63.0-Cirnigliaro2023 G
OBSCN     AU2072302chr1:
228525007-228525007		CTexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.C16723T
c.C16723T
c.C19594T		p.R5575C
p.R5575C
p.R6532C		15.088.688E-5Yuen2017 G
Zhou2022 GE
OBSCN     5926chr1:
228401952-228401952		GGCexonicDe novoframeshift insertionNM_001098623
NM_001271223
NM_052843		c.1336_1337insC
c.1336_1337insC
c.1336_1337insC		p.V446fs
p.V446fs
p.V446fs		--Trost2022 G
OBSCN     mAGRE5522chr1:
228494870-228494870		TCsplicingMaternalsplicing13.13-Cirnigliaro2023 G
OBSCN     MSSNG00334-004chr1:
228475498-228475498		GAexonicDe novosynonymous SNVNM_001098623
NM_052843
NM_001271223		c.G9648A
c.G9648A
c.G10935A		p.K3216K
p.K3216K
p.K3645K		--Trost2022 G
OBSCN     mAGRE2188chr1:
228486166-228486166		CTexonicPaternalstopgainNM_001271223c.C12958Tp.R4320X62.05.261E-5Cirnigliaro2023 G
OBSCN     SJD_69.3chr1:
228445552-228445552		GCintronicDe novo--Trost2022 G
OBSCN     mAGRE2186chr1:
228486166-228486166		CTexonicPaternalstopgainNM_001271223c.C12958Tp.R4320X62.05.261E-5Cirnigliaro2023 G
OBSCN     3A551chr1:
228559450-228559450		GCexonicDe novononsynonymous SNVNM_001098623
NM_001271223		c.G20971C
c.G23842C		p.G6991R
p.G7948R		11.56-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
OBSCN     mAGRE4146chr1:
228481318-228481318		GAsplicingMaternalsplicing11.66-Cirnigliaro2023 G
OBSCN     AU4093302chr1:
228476026-228476026		GAsplicingPaternalsplicing13.413.402E-5Cirnigliaro2023 G
OBSCN     AU4093301chr1:
228476026-228476026		GAsplicingPaternalsplicing13.413.402E-5Cirnigliaro2023 G
OBSCN     mAGRE5114chr1:
228474741-228474742		GTGsplicingPaternalsplicing--Cirnigliaro2023 G
OBSCN     mAGRE1901chr1:
228560587-228560587		GTexonicPaternalstopgainNM_001098623
NM_001271223		c.G22108T
c.G24979T		p.E7370X
p.E8327X		65.05.69E-5Cirnigliaro2023 G
OBSCN     SP0174051chr1:
228565164-228565164		TCintronicDe novo--Trost2022 G
OBSCN     mAGRE6196chr1:
228559562-228559562		GAexonicMaternalstopgainNM_001098623
NM_001271223		c.G21083A
c.G23954A		p.W7028X
p.W7985X		64.01.919E-5Cirnigliaro2023 G
OBSCN     mAGRE6018chr1:
228559439-228559439		CAexonicPaternalstopgainNM_001098623
NM_001271223		c.C20960A
c.C23831A		p.S6987X
p.S7944X		64.03.0E-4Cirnigliaro2023 G
OBSCN     mAGRE6017chr1:
228559439-228559439		CAexonicPaternalstopgainNM_001098623
NM_001271223		c.C20960A
c.C23831A		p.S6987X
p.S7944X		64.03.0E-4Cirnigliaro2023 G
OBSCN     6265chr1:
228505699-228505699		TGexonicDe novosynonymous SNVNM_001098623
NM_052843
NM_001271223		c.T13956G
c.T13956G
c.T16827G		p.G4652G
p.G4652G
p.G5609G		-3.0E-4Trost2022 G
OBSCN     mAGRE3047chr1:
228554779-228554795		AGGGAGCGAGACATCCTAexonicMaternalframeshift deletionNM_001098623
NM_001271223		c.19532_19547del
c.22403_22418del		p.R6511fs
p.R7468fs		-3.632E-5Cirnigliaro2023 G
OBSCN     SP0078594chr1:
228501402-228501402		CTintronicDe novo--Trost2022 G
OBSCN     mAGRE3046chr1:
228554779-228554795		AGGGAGCGAGACATCCTAexonicMaternalframeshift deletionNM_001098623
NM_001271223		c.19532_19547del
c.22403_22418del		p.R6511fs
p.R7468fs		-3.632E-5Cirnigliaro2023 G
OBSCN     SP0095737chr1:
228522164-228522164		CTintronicDe novo-5.0E-4Trost2022 G
OBSCN     mAGRE1454chr1:
228540764-228540764		GAsplicingPaternalsplicing13.43-Cirnigliaro2023 G
OBSCN     SJD_58.4chr1:
228521871-228521871		CTintronicDe novo--Trost2022 G
OBSCN     mAGRE2796chr1:
228509081-228509081		CTexonicPaternalstopgainNM_001098623
NM_052843
NM_001271223		c.C14539T
c.C14539T
c.C17410T		p.Q4847X
p.Q4847X
p.Q5804X		63.0-Cirnigliaro2023 G
OBSCN     07C70673chr1:
228525007-228525007		CTexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.C16723T
c.C16723T
c.C19594T		p.R5575C
p.R5575C
p.R6532C		15.088.688E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
OBSCN     7-0100-004chr1:
228523967-228523967		GAexonicDe novosynonymous SNVNM_001098623
NM_052843
NM_001271223		c.G16533A
c.G16533A
c.G19404A		p.R5511R
p.R5511R
p.R6468R		8.45-Trost2022 G
Yuen2017 G
Zhou2022 GE
OBSCN     AU2129301chr1:
228443154-228443154		AGintronicDe novo--Trost2022 G
Yuen2017 G
OBSCN     P1190chr1:
228476583-228476583		GCexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.G10333C
c.G10333C
c.G11620C		p.V3445L
p.V3445L
p.V3874L		12.85-Hashimoto2016 E
OBSCN     08C76149chr1:
228482697-228482697		CTexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.C11612T
c.C11612T
c.C12899T		p.S3871L
p.S3871L
p.S4300L		15.92-Fu2022 E
OBSCN     A1443Bchr1:
228470919-228470919		AGexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.A8671G
c.A8671G
c.A9958G		p.K2891E
p.K2891E
p.K3320E		18.43-Fu2022 E
OBSCN     iHART2188chr1:
228486166-228486166		CTexonicPaternalstopgainNM_001271223c.C12958Tp.R4320X62.05.261E-5Ruzzo2019 G
OBSCN     iHART3290chr1:
228476026-228476026		GAsplicingPaternalsplicing13.413.402E-5Ruzzo2019 G
OBSCN     iHART2795chr1:
228509081-228509081		CTexonicPaternalstopgainNM_001098623
NM_052843
NM_001271223		c.C14539T
c.C14539T
c.C17410T		p.Q4847X
p.Q4847X
p.Q5804X		63.0-Ruzzo2019 G
OBSCN     iHART2186chr1:
228486166-228486166		CTexonicPaternalstopgainNM_001271223c.C12958Tp.R4320X62.05.261E-5Ruzzo2019 G
OBSCN     4906chr1:
228505699-228505699		TGexonicDe novosynonymous SNVNM_001098623
NM_052843
NM_001271223		c.T13956G
c.T13956G
c.T16827G		p.G4652G
p.G4652G
p.G5609G		-3.0E-4Fu2022 E
OBSCN     200675785_1082034430chr1:
228447223-228447223		AGexonicDe novononsynonymous SNVNM_001271223c.A4883Gp.K1628R14.64-Fu2022 E
OBSCN     iHART3291chr1:
228476026-228476026		GAsplicingPaternalsplicing13.413.402E-5Ruzzo2019 G
OBSCN     ASC_151533chr1:
228563883-228563883		ATintronicDe novo--Fu2022 E
OBSCN     iHART1490chr1:
228465550-228465550		CTexonicMaternalstopgainNM_001098623
NM_052843
NM_001271223		c.C6850T
c.C6850T
c.C8137T		p.R2284X
p.R2284X
p.R2713X		47.07.585E-5Ruzzo2019 G
OBSCN     08C71265chr1:
228527670-228527670		CTexonicDe novosynonymous SNVNM_001098623
NM_052843
NM_001271223		c.C17283T
c.C17283T
c.C20154T		p.C5761C
p.C5761C
p.C6718C		10.938.302E-6Fu2022 E
Source Variant Information

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Paper Information
Title
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Technology
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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.
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