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Results for "IGF2R"

Variant Events: 54

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
IGF2R     AU046706chr6:
160503976-160503976		TCintronicDe novo--Trost2022 G
IGF2R     MSSNG00098-004chr6:
160512787-160512787		GCintronicDe novo--Trost2022 G
IGF2R     1-0629-003chr6:
160538634-160538634		AGintergenicDe novo--Yuen2017 G
IGF2R     2-1659-003chr6:
160484276-160484276		GAintronicDe novo--Trost2022 G
IGF2R     2-1456-004chr6:
160484276-160484276		GAintronicDe novo--Trost2022 G
IGF2R     iHART2284chr6:
160485487-160485487		CCGexonicMaternalframeshift insertionNM_000876c.3942dupGp.T1314fs-8.0E-4Ruzzo2019 G
IGF2R     2-1456-004chr6:
160484271-160484273		ATGGTTintronicDe novo--Trost2022 G
IGF2R     iHART2285chr6:
160485487-160485487		CCGexonicMaternalframeshift insertionNM_000876c.3942dupGp.T1314fs-8.0E-4Ruzzo2019 G
IGF2R     2-1464-003chr6:
160484276-160484276		GAintronicDe novo--Trost2022 G
IGF2R     2-1659-003chr6:
160484271-160484273		ATGGTTintronicDe novo--Trost2022 G
IGF2R     2-0289-003chr6:
160484271-160484273		ATGGTTintronicDe novo--Trost2022 G
IGF2R     NDAR_INVGE088ZLW_wes1chr6:
160524825-160524825		AGexonicDe novononsynonymous SNVNM_000876c.A7043Gp.N2348S9.0870.0035DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
IGF2R     4-0082-004chr6:
160527213-160527213		GCUTR3De novo--Trost2022 G
IGF2R     2-0139-003chr6:
160529784-160529784		GAUTR3De novo--Trost2022 G
IGF2R     2-0043-003chr6:
160499238-160499238		GAexonicDe novosynonymous SNVNM_000876c.G5322Ap.T1774T-2.0E-4Trost2022 G
Yuen2016 G
Yuen2017 G
IGF2R     2-1719-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
IGF2R     mAGRE2284chr6:
160485487-160485487		CCGexonicMaternalframeshift insertionNM_000876c.3942dupGp.T1314fs-8.0E-4Cirnigliaro2023 G
IGF2R     2-1525-003chr6:
160504637-160504637		CTintronicDe novo--Trost2022 G
Yuen2017 G
IGF2R     2-1509-003chr6:
160470409-160470409		TGintronicDe novo--Trost2022 G
Yuen2017 G
IGF2R     mAGRE2285chr6:
160485487-160485487		CCGexonicMaternalframeshift insertionNM_000876c.3942dupGp.T1314fs-8.0E-4Cirnigliaro2023 G
IGF2R     2-0223-004chr6:
160431806-160431806		GAexonicDe novononsynonymous SNVNM_000876c.G502Ap.A168T22.78.322E-6Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE
IGF2R     1-0357-003chr6:
160420224-160420224		AGintronicDe novo--Trost2022 G
Yuen2017 G
IGF2R     14016.p1chr6:
160445739-160445739		AGintronicDe novo-8.239E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
IGF2R     13632.p1chr6:
160471622-160471622		AGexonicDe novononsynonymous SNVNM_000876c.A2632Gp.S878G9.0441.0E-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
IGF2R     SSC09979chr6:
160497021-160497021		TTGAexonicframeshift insertionNM_000876c.5309_5310insGAp.V1770fs--Antaki2022 GE
IGF2R     2-1350-004chr6:
160401263-160401263		GGAintronicDe novo--Yuen2017 G
IGF2R     7-0012-003chr6:
160445347-160445347		TCintronicDe novo--Trost2022 G
Yuen2017 G
IGF2R     2-1280-003chr6:
160505792-160505792		GAintronicDe novo--Yuen2016 G
IGF2R     ASDFI_1029chr6:
160485397-160485397		GAintronicDe novo--Satterstrom2020 E
Trost2022 G
IGF2R     SMHC01998s000chr6:
160484480-160484480		GAexonicDe novononsynonymous SNVNM_000876c.G3704Ap.G1235D20.78.237E-5Yuan2023 E
IGF2R     SSC08936chr6:
160471622-160471622		AGexonicDe novononsynonymous SNVNM_000876c.A2632Gp.S878G9.0441.0E-4Trost2022 G
IGF2R     7-0224-003chr6:
160481144-160481144		CAintronicDe novo--Trost2022 G
IGF2R     10-0007-003chr6:
160437712-160437712		ATintronicDe novo--Trost2022 G
IGF2R     4-0100-003chr6:
160447169-160447169		TCintronicDe novo--Trost2022 G
IGF2R     SP0139843chr6:
160485466-160485466		GCexonicDe novononsynonymous SNVNM_000876c.G3920Cp.G1307A15.54-Fu2022 E
Trost2022 G
Zhou2022 GE
IGF2R     1-0599-005chr6:
160421515-160421528		CTCGGGATCACAATCintronicDe novo--Trost2022 G
IGF2R     AU4250301chr6:
160500662-160500662		CTexonicDe novosynonymous SNVNM_000876c.C5529Tp.V1843V-4.423E-5Trost2022 G
Yuen2017 G
Zhou2022 GE
IGF2R     REACH000065chr6:
160435453-160435453		AGintronicDe novo--Trost2022 G
IGF2R     SP0069616chr6:
160500820-160500820		GTsplicingsplicing17.19-Zhou2022 GE
IGF2R     SP0051441chr6:
160492966-160492966		GAexonicDe novononsynonymous SNVNM_000876c.G4468Ap.A1490T22.81.647E-5Fu2022 E
Trost2022 G
Zhou2022 GE
IGF2R     2-1757-003chr6:
160450679-160450679		CTexonicDe novononsynonymous SNVNM_000876c.C874Tp.R292W18.046.737E-5Trost2022 G
Zhou2022 GE
IGF2R     AU2320301chr6:
160411556-160411556		TCintronicDe novo--Trost2022 G
IGF2R     36002chr6:
160445739-160445739		AGintronicDe novo-8.239E-6Fu2022 E
Trost2022 G
IGF2R     5-0017-003chr6:
160484170-160484173		AGTGCGCCintronicDe novo--Trost2022 G
IGF2R     1-0296-004chr6:
160401263-160401263		GGAintronicDe novo--Yuen2017 G
IGF2R     5-0014-004chr6:
160484271-160484273		ATGGTTintronicDe novo--Trost2022 G
IGF2R     5-0017-003chr6:
160484161-160484162		TTCCintronicDe novo--Trost2022 G
IGF2R     13908.p1chr6:
160497021-160497021		TTGAexonicDe novoframeshift insertionNM_000876c.5309_5310insGAp.V1770fs--Wilfert2021 G
Zhou2022 GE
IGF2R     1-0049-004chr6:
160484170-160484173		AGTGCGCCintronicDe novo--Trost2022 G
IGF2R     1-0290-003chr6:
160406023-160406023		GAintronicDe novo--Yuen2017 G
IGF2R     5-0017-003chr6:
160484155-160484155		TCintronicDe novo--Trost2022 G
IGF2R     1-0049-004chr6:
160484161-160484162		TTCCintronicDe novo--Trost2022 G
IGF2R     1-0826-003chr6:
160484124-160484126		TAACAGintronicDe novo--Trost2022 G
IGF2R     1-0826-003chr6:
160484132-160484133		CCGGintronicDe 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
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