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Results for "RTF1"

Variant Events: 11

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
RTF1     10C108338chr15:
41745214-41745214
ACexonicDe novononsynonymous SNVNM_015138c.A425Cp.D142A16.67-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RTF1     13942.p1chr15:
41770503-41770503
GAintronicDe novo--Turner2016 G
RTF1     2007-24164chr15:
41772874-41772874
GAexonicnonsynonymous SNVNM_015138c.G2122Ap.G708R23.5-Callaghan2019 G
RTF1     1-0385-003chr15:
41750401-41750401
AGintronicDe novo--Yuen2017 G
RTF1     2-1441-003chr15:
41778667-41778667
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
RTF1     AU2140306chr15:
41753832-41753832
CTintronicDe novo--Yuen2017 G
RTF1     AU031003chr15:
41727990-41727990
GAintronicDe novo--Yuen2017 G
RTF1     AU4487302chr15:
41752757-41752757
CTintronicDe novo--Yuen2017 G
RTF1     5096_202_child chr15:
41745214-41745214
ACexonicDe novononsynonymous SNVNM_015138c.A425Cp.D142A16.67-Neale2012 E
RTF1     1-1000-003chr15:
41714169-41714169
CGintronicDe novo--Yuen2017 G
RTF1     SP0017106chr15:
41769454-41769454
GAexonicDe novononsynonymous SNVNM_015138c.G1652Ap.R551H36.0-Feliciano2019 E
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
Curation notesView
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