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Results for "CASC3"

Variant Events: 17

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
CASC3     1-0511-003chr17:
38323503-38323503
CTintronicDe novo--Yuen2017 G
CASC3     mAGRE4923chr17:
38318281-38318281
ACexonicDe novononsynonymous SNVNM_007359c.A483Cp.K161N12.69-Cirnigliaro2023 G
CASC3     Marques2022:118chr17:
38320381-38320381
CTexonicnonsynonymous SNVNM_007359c.C1433Tp.P478L11.549.0E-4Marques2022 ET
CASC3     Marques2022:117chr17:
38320381-38320381
CTexonicnonsynonymous SNVNM_007359c.C1433Tp.P478L11.549.0E-4Marques2022 ET
CASC3     Marques2022:120chr17:
38324554-38324554
CTexonicnonsynonymous SNVNM_007359c.C1849Tp.L617F31.00.0061Marques2022 ET
CASC3     MSSNG00435-003chr17:
38328359-38328359
TCUTR3De novo26.0-Trost2022 G
CASC3     Marques2022:119chr17:
38324454-38324454
AGsplicingsplicing22.0-Marques2022 ET
CASC3     Marques2022:114chr17:
38296913-38296913
GTexonicnonsynonymous SNVNM_007359c.G112Tp.G38C18.61-Marques2022 ET
CASC3     1-1129-003chr17:
38327268-38327268
TCUTR3De novo--Trost2022 G
CASC3     1-1129-003chr17:
38327270-38327270
AGUTR3De novo--Trost2022 G
CASC3     AU063004chr17:
38310925-38310925
GCintronicDe novo--Trost2022 G
Yuen2017 G
CASC3     Marques2022:116chr17:
38318281-38318281
ACexonicnonsynonymous SNVNM_007359c.A483Cp.K161N12.69-Marques2022 ET
CASC3     Marques2022:115chr17:
38318151-38318151
GAexonicnonsynonymous SNVNM_007359c.G443Ap.S148N14.52-Marques2022 ET
CASC3     7-0005-003chr17:
38314590-38314590
AGintronicDe novo--Trost2022 G
CASC3     SP0103631chr17:
38296964-38296964
CGexonicDe novononsynonymous SNVNM_007359c.C163Gp.R55G15.01-Fu2022 E
Trost2022 G
Zhou2022 GE
CASC3     2-1296-003chr17:
38309707-38309707
ATintronicDe novo--Trost2022 G
Yuen2017 G
CASC3     Marques2022:121chr17:
38324554-38324554
CTexonicnonsynonymous SNVNM_007359c.C1849Tp.L617F31.00.0061Marques2022 ET
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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