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Results for "ADGRV1"

Variant Events: 117

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
ADGRV1     2-1458-003chr5:
89903959-89903973		TTAAGATATAAGGAATintronicDe novo--Trost2022 G
ADGRV1     MT_81.3chr5:
89915012-89915015		TTGATintronicDe novo-6.051E-5Trost2022 G
ADGRV1     2-1635-004chr5:
89897004-89897004		ATintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     MSSNG00369-005chr5:
89898057-89898057		GAintronicDe novo--Trost2022 G
ADGRV1     MT_59.3chr5:
89898905-89898905		GAintronicDe novo--Trost2022 G
ADGRV1     7-0381-003chr5:
89873267-89873267		GCintronicDe novo--Trost2022 G
ADGRV1     5-5129-003chr5:
89885098-89885098		AGintronicDe novo--Trost2022 G
ADGRV1     5-5035-003chr5:
89868257-89868257		TGintronicDe novo--Trost2022 G
ADGRV1     SP0056881chr5:
89972066-89972066		CGintronicDe novo--Trost2022 G
ADGRV1     4-0100-003chr5:
89983020-89983020		CTintronicDe novo--Trost2022 G
ADGRV1     MSSNG00043-004Achr5:
89942314-89942314		CTintronicDe novo--Trost2022 G
ADGRV1     3-0434-000chr5:
90314633-90314633		TGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ADGRV1     REACH000650chr5:
89965580-89965580		CTintronicDe novo--Trost2022 G
ADGRV1     AU1521301chr5:
90224731-90224731		GAintronicDe novo--Yuen2017 G
ADGRV1     C209003chr5:
89968443-89968443		CGexonicDe novosynonymous SNVNM_032119c.C4833Gp.T1611T--Fu2022 E
ADGRV1     SP0082424chr5:
89938390-89938390		CAintronicDe novo--Trost2022 G
ADGRV1     MT_22.3chr5:
89940897-89940897		GGTintronicDe novo--Trost2022 G
ADGRV1     AU4379301chr5:
90250366-90250366		CTintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     V5T5W_01chr5:
89915525-89915525		GTintronicDe novo--Trost2022 G
ADGRV1     7-0291-003Achr5:
89927916-89927916		GCintronicDe novo--Trost2022 G
ADGRV1     1-1024-003chr5:
90235300-90235301		AGAintronicDe novo--Trost2022 G
ADGRV1     7-0240-004chr5:
90241073-90241073		CTintronicDe novo--Trost2022 G
ADGRV1     REACH000639chr5:
90023706-90023706		CGintronicDe novo--Trost2022 G
ADGRV1     2-0142-003chr5:
90060248-90060248		AAAAAAATintronicDe novo--Trost2022 G
ADGRV1     1-1134-004chr5:
90008987-90008987		TAintronicDe novo--Trost2022 G
ADGRV1     AU3765303chr5:
89946427-89946427		AGintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     2-1548-003chr5:
90022751-90022751		TCintronicDe novo--Trost2022 G
ADGRV1     2-0145-004chr5:
89997821-89997824		GTTTAAAAAAAAAAAintronicDe novo--Trost2022 G
ADGRV1     1-0627-004chr5:
90536255-90536255		CAintergenicDe novo--Yuen2017 G
ADGRV1     1-0059-003Achr5:
90006397-90006397		TGintronicDe novo--Trost2022 G
ADGRV1     MSSNG00357-004chr5:
90444713-90444713		GAintronicDe novo--Trost2022 G
ADGRV1     1-0559-003chr5:
89945819-89945819		TTAAintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     1-1134-003chr5:
90446676-90446676		CTintronicDe novo--Trost2022 G
ADGRV1     5-0147-003chr5:
90487233-90487233		AGintergenicDe novo--Yuen2017 G
ADGRV1     AU1687302chr5:
90064161-90064161		AGintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     7-0328-003chr5:
90345985-90345985		GTintronicDe novo--Trost2022 G
ADGRV1     AU2303301chr5:
90362927-90362927		TCintronicDe novo--Trost2022 G
ADGRV1     AU1448303chr5:
90319786-90319786		GTintronicDe novo--Trost2022 G
ADGRV1     4-0062-003chr5:
90333027-90333028		TTAAintronicDe novo--Trost2022 G
ADGRV1     AU4186302chr5:
90478690-90478690		CGintergenicDe novo--Yuen2017 G
ADGRV1     3-0459-000chr5:
90246564-90246564		CTintronicDe novo--Trost2022 G
ADGRV1     REACH000597chr5:
90277381-90277381		GAintronicDe novo--Trost2022 G
ADGRV1     2-1182-003chr5:
90281353-90281353		GAintronicDe novo-8.373E-6Yuen2016 G
Yuen2017 G
ADGRV1     7-0227-003chr5:
90459015-90459015		GAintronicDe novo--Trost2022 G
ADGRV1     7-0198-003chr5:
90448555-90448555		CTintronicDe novo--Trost2022 G
ADGRV1     MSSNG00101-004chr5:
90449109-90449109		AGexonicDe novosynonymous SNVNM_032119c.A18696Gp.P6232P--Trost2022 G
ADGRV1     AU066206chr5:
90514482-90514482		AGintergenicDe novo--Yuen2017 G
ADGRV1     2-1632-003chr5:
90010496-90010496		TAintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     SP0009874chr5:
90012409-90012409		GAexonicDe novononsynonymous SNVNM_032119c.G9310Ap.V3104I8.881-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
ADGRV1     MCD-017-3chr5:
89949452-89949452		ATexonicPaternalnonsynonymous SNVNM_032119c.A4061Tp.N1354I18.221.716E-5Tuncay2023 G
ADGRV1     A9chr5:
89895585-89895585		AGintronicDe novo--Wu2018 G
ADGRV1     7-0148-003chr5:
90098051-90098051		GAintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     AU1687303chr5:
90064161-90064161		AGintronicDe novo--Yuen2017 G
ADGRV1     2-0307-003chr5:
89888857-89888857		TCintronicDe novo--Yuen2017 G
ADGRV1     2-0305-003chr5:
90099823-90099823		GAintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     DEASD_1063_001chr5:
90049642-90049646		TAAAGTexonicDe novoframeshift deletionNM_032119c.11374_11377delp.K3792fs--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ADGRV1     Wang2023:788chr5:
90106682-90106682		CTexonicDe novononsynonymous SNVNM_032119c.C15605Tp.S5202F9.919-Wang2023 E
ADGRV1     SSC06607chr5:
89923398-89923398		ATexonicDe novononsynonymous SNVNM_032119c.A1043Tp.D348V25.5-Fu2022 E
Lim2017 E
Trost2022 G
ADGRV1     13856.p1chr5:
89918495-89918495		GAexonicMosaicnonsynonymous SNVNM_032119c.G535Ap.G179R34.01.911E-5Dou2017 E
ADGRV1     SSC06014chr5:
90144469-90144469		AGexonicDe novononsynonymous SNVNM_032119c.A17035Gp.K5679E9.125-Lim2017 E
Trost2022 G
ADGRV1     SSC02682chr5:
89949288-89949288		GAexonicDe novononsynonymous SNVNM_032119c.G3897Ap.M1299I15.56-Fu2022 E
Lim2017 E
Trost2022 G
ADGRV1     AU3859301chr5:
90060419-90060419		GAintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     AU2525302chr5:
90255650-90255650		AGintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     AU3809302chr5:
89953530-89953530		TGintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     74-0115chr5:
90449225-90449225		ATintronicDe novo--Michaelson2012 G
ADGRV1     74-0115chr5:
90449167-90449167		GAexonicDe novononsynonymous SNVNM_032119c.G18754Ap.D6252N24.51.0E-4Michaelson2012 G
ADGRV1     1-0898-003chr5:
90125726-90125726		AGintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     REACH000258chr5:
90119296-90119296		CTexonicDe novosynonymous SNVNM_032119c.C16251Tp.V5417V-4.968E-5Trost2022 G
Zhou2022 GE
ADGRV1     SP0020815chr5:
89938783-89938783		GAexonicsynonymous SNVNM_032119c.G2478Ap.T826T7.4873.314E-5Zhou2022 GE
ADGRV1     98HI0379Achr5:
90449167-90449167		GAexonicDe novononsynonymous SNVNM_032119c.G18754Ap.D6252N24.51.0E-4Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ADGRV1     1-0059-003chr5:
90006397-90006397		TGintronicDe novo--Yuen2017 G
ADGRV1     3-0446-000chr5:
90284857-90284857		TCintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     1-0638-003chr5:
89945686-89945705		TGAGAGAGAGAGAGAGAGAGTGAGAGAGAGAGAGAGAGintronicDe novo--Yuen2017 G
ADGRV1     iHART1669chr5:
90004686-90004687		ACAexonicPaternalframeshift deletionNM_032119c.8785delCp.L2929fs-8.284E-6Ruzzo2019 G
ADGRV1     iHART1668chr5:
90004686-90004687		ACAexonicPaternalframeshift deletionNM_032119c.8785delCp.L2929fs-8.284E-6Ruzzo2019 G
ADGRV1     iHART2676chr5:
90151630-90151632		CATCexonicPaternalframeshift deletionNM_032119c.17668_17669delp.M5890fs-2.488E-5Ruzzo2019 G
ADGRV1     MCD-017-3chr5:
90368293-90368293		TCexonicMaternalnonsynonymous SNVNM_032119c.T18182Cp.L6061S18.99-Tuncay2023 G
ADGRV1     iHART1192chr5:
90106341-90106341		AATexonicPaternalframeshift insertionNM_032119c.15265dupTp.E5088fs--Ruzzo2019 G
ADGRV1     MCD-017-3chr5:
89923448-89923448		GTexonicMaternalnonsynonymous SNVNM_032119c.G1093Tp.D365Y20.6-Tuncay2023 G
ADGRV1     iHART1931chr5:
89938703-89938703		CTexonicMaternalstopgainNM_032119c.C2398Tp.R800X39.02.507E-5Ruzzo2019 G
ADGRV1     1-0367-003chr5:
90074020-90074037		CGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGintronicDe novo--Yuen2017 G
ADGRV1     iHART2872chr5:
89968540-89968540		GAsplicingPaternalsplicing24.9-Ruzzo2019 G
ADGRV1     AU4149301chr5:
90467470-90467470		TCintergenicDe novo--Yuen2017 G
ADGRV1     iHART1930chr5:
89938703-89938703		CTexonicMaternalstopgainNM_032119c.C2398Tp.R800X39.02.507E-5Ruzzo2019 G
ADGRV1     2-1486-003chr5:
89869668-89869668		CTintronicDe novo--Yuen2016 G
Yuen2017 G
ADGRV1     1-0627-006chr5:
90030321-90030321		GTintronicDe novo--Yuen2017 G
ADGRV1     AU2293301chr5:
89958873-89958873		AGintronicDe novo--Yuen2017 G
ADGRV1     Hu2022:76chr5:
90074281-90074281		AGexonicUnknownnonsynonymous SNVNM_032119c.A12704Gp.Y4235C14.592.0E-4Hu2022 T
ADGRV1     Hu2022:76chr5:
89954046-89954046		GAexonicUnknownnonsynonymous SNVNM_032119c.G4703Ap.S1568N26.26.327E-5Hu2022 T
ADGRV1     12832.p1chr5:
90144469-90144469		AGexonicDe novononsynonymous SNVNM_032119c.A17035Gp.K5679E9.125-Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
ADGRV1     AU017704chr5:
90133940-90133940		TCintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     12852.p1chr5:
89923398-89923398		ATexonicDe novononsynonymous SNVNM_032119c.A1043Tp.D348V25.5-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
ADGRV1     AU017704chr5:
90449997-90449997		TCintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     1-0294-003chr5:
90492841-90492841		CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ADGRV1     2-0109-003chr5:
90527454-90527454		CTintergenicDe novo--Yuen2017 G
ADGRV1     SP0046030chr5:
89980007-89980007		GAexonicDe novononsynonymous SNVNM_032119c.G6269Ap.R2090H14.771.0E-4Fu2022 E
Trost2022 G
Zhou2022 GE
ADGRV1     mAGRE2872chr5:
89968540-89968540		GAsplicingPaternalsplicing24.9-Cirnigliaro2023 G
ADGRV1     mAGRE1931chr5:
89938703-89938703		CTexonicMaternalstopgainNM_032119c.C2398Tp.R800X39.02.507E-5Cirnigliaro2023 G
ADGRV1     AU1448301chr5:
90319786-90319786		GTintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     mAGRE1930chr5:
89938703-89938703		CTexonicMaternalstopgainNM_032119c.C2398Tp.R800X39.02.507E-5Cirnigliaro2023 G
ADGRV1     SP0144763chr5:
90459648-90459648		GCexonicDe novononsynonymous SNVNM_032119c.G18852Cp.E6284D8.533.481E-5Fu2022 E
Trost2022 G
Zhou2022 GE
ADGRV1     SP0083156chr5:
89913770-89913770		GCexonicDe novononsynonymous SNVNM_032119c.G357Cp.Q119H14.47-Fu2022 E
Zhou2022 GE
ADGRV1     SP0033756chr5:
90098576-90098576		TCexonicDe novosynonymous SNVNM_032119c.T14538Cp.S4846S--Fu2022 E
Trost2022 G
Zhou2022 GE
ADGRV1     SP0074684chr5:
89988477-89988477		GAexonicDe novononsynonymous SNVNM_032119c.G7007Ap.R2336Q14.458.475E-5Fu2022 E
Trost2022 G
Zhou2022 GE
ADGRV1     mAGRE2676chr5:
90151630-90151632		CATCexonicPaternalframeshift deletionNM_032119c.17668_17669delp.M5890fs-2.488E-5Cirnigliaro2023 G
ADGRV1     1-0568-003chr5:
90198723-90198723		AGintronicDe novo--Trost2022 G
Yuen2017 G
ADGRV1     mAGRE1192chr5:
90106341-90106341		AATexonicPaternalframeshift insertionNM_032119c.15265dupTp.E5088fs--Cirnigliaro2023 G
ADGRV1     mAGRE5343chr5:
90049430-90049430		CCTexonicPaternalframeshift insertionNM_032119c.11162dupTp.L3721fs--Cirnigliaro2023 G
ADGRV1     mAGRE1669chr5:
90004686-90004687		ACAexonicPaternalframeshift deletionNM_032119c.8785delCp.L2929fs-8.284E-6Cirnigliaro2023 G
ADGRV1     mAGRE1668chr5:
90004686-90004687		ACAexonicPaternalframeshift deletionNM_032119c.8785delCp.L2929fs-8.284E-6Cirnigliaro2023 G
ADGRV1     14590.p1chr5:
90123942-90123942		AGintronicDe novo--Turner2016 G
ADGRV1     11572.p1chr5:
90266383-90266383		GAintronicDe novo--Turner2016 G
ADGRV1     09C99813chr5:
90281353-90281353		GAintronicDe novo-8.373E-6Satterstrom2020 E
Trost2022 G
ADGRV1     11484.p1 Complex Event; expand row to view variants  De novononsynonymous SNVNM_032119
NM_032119		c.G3897A
c.G3897C		p.M1299I
p.M1299I		15.56-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
ADGRV1     AU1995302chr5:
90039405-90039405		CTintronicDe novo--Yuen2017 G
ADGRV1     A4chr5:
90516674-90516674		ACintergenicDe novo--Wu2018 G
ADGRV1     1-0009-004chr5:
90022957-90022957		TCintronicDe novo--Trost2022 G
Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
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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.
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