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Results for "RANBP2"

Variant Events: 32

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
RANBP2     W7R4Wchr2:
109398656-109398656		CTexonicUnknownnonsynonymous SNVNM_006267c.C8833Tp.R2945W17.96-Stessman2017 T
RANBP2     SSC09405chr2:
109392193-109392197		TCAGATexonicDe novoframeshift deletionNM_006267c.8299_8302delp.Q2767fs--Antaki2022 GE
Fu2022 E
Trost2022 G
RANBP2     5437chr2:
109388152-109388152		TAintronicDe novo-1.673E-5Fu2022 E
Trost2022 G
RANBP2     SSC09641chr2:
109384219-109384219		TCexonicDe novosynonymous SNVNM_006267c.T7224Cp.D2408D--Fu2022 E
RANBP2     AU031204chr2:
109369698-109369698		TGintronicDe novo--Trost2022 G
Yuen2017 G
RANBP2     AU1374302chr2:
109388202-109388202		TAexonicUnknownnonsynonymous SNVNM_006267c.T7895Ap.V2632D23.71.652E-5Stessman2017 T
RANBP2     13520.p1chr2:
109382819-109382819		ATexonicUnknown, De novononsynonymous SNVNM_006267c.A5824Tp.S1942C8.914-Iossifov2014 E
Kosmicki2017 E
Wang2020 T
Zhou2022 GE
RANBP2     13760.p1chr2:
109392193-109392197		TCAGATexonicUnknown, De novoframeshift deletionNM_006267c.8299_8302delp.Q2767fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
RANBP2     215-13161-1783chr2:
109399227-109399227		CTexonicPaternalnonsynonymous SNVNM_006267c.C9278Tp.A3093V34.0-Stessman2017 T
RANBP2     SanDiego_W7R4Wchr2:
109398656-109398656		CTexonicUnknownnonsynonymous SNVNM_006267c.C8833Tp.R2945W17.96-Wang2020 T
RANBP2     ACGC_GZ0023.p1chr2:
109397884-109397884		ATexonicMaternalnonsynonymous SNVNM_006267c.A8759Tp.E2920V25.6-Wang2020 T
RANBP2     05C50633chr2:
109397878-109397878		TCexonicUnknownnonsynonymous SNVNM_006267c.T8753Cp.L2918P22.4-Stessman2017 T
RANBP2     mAGRE4856chr2:
109398721-109398721		GTexonicDe novononsynonymous SNVNM_006267c.G8898Tp.K2966N12.0-Cirnigliaro2023 G
RANBP2     08C75155chr2:
109367972-109367972		TGintronicDe novo--Satterstrom2020 E
Trost2022 G
RANBP2     AU3984301chr2:
109354123-109354123		GAintronicDe novo--Yuen2017 G
RANBP2     14011.p1chr2:
109382788-109382788		GAexonicDe novosynonymous SNVNM_006267c.G5793Ap.K1931K--Krumm2015 E
RANBP2     SP0146580chr2:
109383311-109383311		ATexonicDe novononsynonymous SNVNM_006267c.A6316Tp.M2106L11.7-Fu2022 E
Trost2022 G
Zhou2022 GE
RANBP2     5-0068-003chr2:
109391545-109391546		TCTintronicDe novo--Trost2022 G
RANBP2     11863.p1chr2:
109388152-109388152		TAintronicDe novo-1.673E-5Krumm2015 E
Satterstrom2020 E
Zhou2022 GE
RANBP2     SP0106519chr2:
109352677-109352677		GAexonicDe novononsynonymous SNVNM_006267c.G754Ap.V252M15.25-Fu2022 E
Trost2022 G
Zhou2022 GE
RANBP2     7-0274-003chr2:
109351231-109351231		CGintronicDe novo--Trost2022 G
RANBP2     SP0037525chr2:
109352648-109352648		TCexonicDe novononsynonymous SNVNM_006267c.T725Cp.L242P14.4-Fu2022 E
Trost2022 G
Zhou2022 GE
RANBP2     SP0167725chr2:
109352722-109352722		AGintronicDe novo--Trost2022 G
RANBP2     SP0351239chr2:
109384604-109384604		ACexonicnonsynonymous SNVNM_006267c.A7609Cp.N2537H9.931-Zhou2022 GE
RANBP2     SP0308010chr2:
109383270-109383270		CTexonicnonsynonymous SNVNM_006267c.C6275Tp.T2092M14.678.352E-6Zhou2022 GE
RANBP2     SSC07699chr2:
109382819-109382819		ATexonicDe novononsynonymous SNVNM_006267c.A5824Tp.S1942C8.914-Fu2022 E
Lim2017 E
RANBP2     AGRE_05C50633chr2:
109397878-109397878		TCexonicUnknownnonsynonymous SNVNM_006267c.T8753Cp.L2918P22.4-Wang2020 T
RANBP2     T8W2Wchr2:
109345594-109345594		AGexonicInheritednonsynonymous SNVNM_006267c.A79Gp.M27V9.4151.861E-5Stessman2017 T
RANBP2     AGRE_05C45016chr2:
109388202-109388202		TAexonicUnknownnonsynonymous SNVNM_006267c.T7895Ap.V2632D23.71.652E-5Wang2020 T
RANBP2     SP0141591chr2:
109369843-109369843		GAintronicDe novo--Fu2022 E
RANBP2     ACGC_M19720chr2:
109398674-109398674		ATexonicUnknownstopgainNM_006267c.A8851Tp.K2951X50.0-Wang2020 T
RANBP2     AGRE_08C79457chr2:
109389335-109389335		GAexonicUnknownnonsynonymous SNVNM_006267c.G8125Ap.E2709K35.01.0E-4Wang2020 T
Source Variant Information

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Source:

Paper alias:

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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
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