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Results for "IGF2R"

Variant Events: 20

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     1-0629-003chr6:
160538634-160538634
AGintergenicDe novo--Yuen2017 G
IGF2R     2-1525-003chr6:
160504637-160504637
CTintronicDe novo--Yuen2017 G
IGF2R     iHART2284chr6:
160485487-160485487
CCGexonicMaternalframeshift insertionNM_000876c.3942dupGp.T1314fs-8.0E-4Ruzzo2019 G
IGF2R     iHART2285chr6:
160485487-160485487
CCGexonicMaternalframeshift insertionNM_000876c.3942dupGp.T1314fs-8.0E-4Ruzzo2019 G
IGF2R     NDAR_INVGE088ZLW_wes1chr6:
160524825-160524825
AGexonicDe novononsynonymous SNVNM_000876c.A7043Gp.N2348S9.0870.0035DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
IGF2R     2-1509-003chr6:
160470409-160470409
TGintronicDe novo--Yuen2017 G
IGF2R     2-0043-003chr6:
160499238-160499238
GAexonicDe novosynonymous SNVNM_000876c.G5322Ap.T1774T-2.0E-4Yuen2016 G
Yuen2017 G
IGF2R     2-1350-004chr6:
160401263-160401263
GGAintronicDe novo--Yuen2017 G
IGF2R     7-0012-003chr6:
160445347-160445347
TCintronicDe novo--Yuen2017 G
IGF2R     2-1280-003chr6:
160505792-160505792
GAintronicDe novo--Yuen2016 G
IGF2R     AU4250301chr6:
160500662-160500662
CTexonicDe novosynonymous SNVNM_000876c.C5529Tp.V1843V-4.423E-5Yuen2017 G
IGF2R     2-0223-004chr6:
160431806-160431806
GAexonicDe novononsynonymous SNVNM_000876c.G502Ap.A168T22.78.322E-6Yuen2015 G
Yuen2017 G
IGF2R     2-1719-003chr6:
160442637-160442647
TAAAAAAAAAATAAAAAAintronicDe novo--Yuen2017 G
IGF2R     1-0296-004chr6:
160401263-160401263
GGAintronicDe novo--Yuen2017 G
IGF2R     1-0357-003chr6:
160420224-160420224
AGintronicDe novo--Yuen2017 G
IGF2R     13908.p1chr6:
160497021-160497021
TTGAexonicDe novoframeshift insertionNM_000876c.5309_5310insGAp.V1770fs--Wilfert2021 G
IGF2R     1-0290-003chr6:
160406023-160406023
GAintronicDe novo--Yuen2017 G
IGF2R     14016.p1chr6:
160445739-160445739
AGintronicDe novo-8.239E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
IGF2R     13632.p1chr6:
160471622-160471622
AGexonicDe novononsynonymous SNVNM_000876c.A2632Gp.S878G9.0441.0E-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
IGF2R     ASDFI_1029chr6:
160485397-160485397
GAintronicDe novo--Satterstrom2020 E
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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