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Results for "RIF1"

Variant Events: 16

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
RIF1     03HI2710Achr2:
152326223-152326223		ATsplicingsplicing16.972.755E-5Doan2019 E
RIF1     80001101154chr2:
152295289-152295289		GCintronicDe novo--Satterstrom2020 E
RIF1     03HI2710Achr2:
152311407-152311407		ATsplicingsplicing19.812.756E-5Doan2019 E
RIF1     03HI2710Achr2:
152301850-152301850		ATsplicingsplicing22.43.304E-5Doan2019 E
RIF1     AU3861301chr2:
152272282-152272282		TCintronicDe novo--Yuen2017 G
RIF1     1-0751-003chr2:
152288663-152288663		CTintronicDe novo--Yuen2017 G
RIF1     PN400457chr2:
152276805-152276805		GAexonicUnknownnonsynonymous SNVNM_001177665
NM_001177663
NM_001177664
NM_018151		c.G605A
c.G605A
c.G605A
c.G605A		p.R202Q
p.R202Q
p.R202Q
p.R202Q		33.07.437E-5Leblond2019 E
RIF1     SP0071814chr2:
152320856-152320859		TCTGTexonicDe novononframeshift deletionNM_001177665
NM_001177663
NM_001177664
NM_018151		c.4823_4825del
c.4823_4825del
c.4823_4825del
c.4823_4825del		p.1608_1609del
p.1608_1609del
p.1608_1609del
p.1608_1609del		--Antaki2022 GE
Fu2022 E
RIF1     DEASD_0054_001chr2:
152321326-152321326		GAexonicDe novosynonymous SNVNM_001177665
NM_001177663
NM_001177664
NM_018151		c.G5292A
c.G5292A
c.G5292A
c.G5292A		p.K1764K
p.K1764K
p.K1764K
p.K1764K		--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RIF1     09C83888chr2:
152279547-152279547		AGexonicDe novosynonymous SNVNM_001177665
NM_001177663
NM_001177664
NM_018151		c.A777G
c.A777G
c.A777G
c.A777G		p.L259L
p.L259L
p.L259L
p.L259L		9.1298.275E-6Fu2022 E
Satterstrom2020 E
RIF1     ASC_CA_129_Achr2:
152314334-152314334		TCexonicDe novosynonymous SNVNM_001177665
NM_001177663
NM_001177664
NM_018151		c.T2712C
c.T2712C
c.T2712C
c.T2712C		p.Y904Y
p.Y904Y
p.Y904Y
p.Y904Y		-4.95E-5Fu2022 E
Satterstrom2020 E
RIF1     SP0053467chr2:
152321151-152321151		CTexonicDe novononsynonymous SNVNM_001177665
NM_001177663
NM_001177664
NM_018151		c.C5117T
c.C5117T
c.C5117T
c.C5117T		p.S1706F
p.S1706F
p.S1706F
p.S1706F		2.524-Fu2022 E
RIF1     SP0053467chr2:
152321147-152321147		AATTexonicframeshift insertionNM_001177665
NM_001177663
NM_001177664
NM_018151		c.5113_5114insTT
c.5113_5114insTT
c.5113_5114insTT
c.5113_5114insTT		p.I1705fs
p.I1705fs
p.I1705fs
p.I1705fs		--Antaki2022 GE
RIF1     SP0004706chr2:
152322621-152322621		CTexonicDe novononsynonymous SNVNM_001177665
NM_001177663
NM_001177664
NM_018151		c.C6587T
c.C6587T
c.C6587T
c.C6587T		p.S2196L
p.S2196L
p.S2196L
p.S2196L		19.98-Fu2022 E
RIF1     SP0081509chr2:
152293809-152293809		AGexonicDe novononsynonymous SNVNM_001177665
NM_001177663
NM_001177664
NM_018151		c.A1427G
c.A1427G
c.A1427G
c.A1427G		p.N476S
p.N476S
p.N476S
p.N476S		9.791-Fu2022 E
RIF1     SP0053415chr2:
152321181-152321181		TGexonicDe novononsynonymous SNVNM_001177665
NM_001177663
NM_001177664
NM_018151		c.T5147G
c.T5147G
c.T5147G
c.T5147G		p.L1716R
p.L1716R
p.L1716R
p.L1716R		5.871-Fu2022 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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