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Results for "RASSF3"

Variant Events: 9

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
RASSF3     A17chr12:
65051745-65051745
TCintronicDe novo--Wu2018 G
RASSF3     AU2072302chr12:
65098628-65098628
CAintergenicDe novo--Yuen2017 G
RASSF3     1-1000-003chr12:
65061103-65061122
TTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTintronicDe novo--Yuen2017 G
RASSF3     AU1725306chr12:
65059299-65059299
CGintronicDe novo--Yuen2017 G
RASSF3     NDAR_INVWJ494BME_wes1chr12:
65082212-65082215
CGTTCexonicDe novononframeshift deletionNM_178169c.437_439delp.146_147del--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
RASSF3     2-1164-003chr12:
65006038-65006038
ATintronicDe novo--Yuen2016 G
Yuen2017 G
RASSF3     2-1184-003chr12:
65006299-65006299
TTAintronicDe novo--Yuen2016 G
RASSF3     iHART1440chr12:
65085248-65085248
AGsplicingPaternalsplicing22.4-Ruzzo2019 G
RASSF3     2-1605-004chr12:
65011691-65011691
TCintronicDe novo--Yuen2017 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
Curation notesView
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