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Results for "IFIH1"

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
IFIH1     13015.p1chr2:
163174408-163174408
TGexonicMosaic, De novononsynonymous SNVNM_022168c.A410Cp.K137T12.72-Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
IFIH1     1-0627-005chr2:
163177846-163177846
GAintergenicDe novo--Yuen2017 G
IFIH1     2-0272-004chr2:
163172283-163172283
ATintronicDe novo--Yuen2017 G
IFIH1     SSC06323chr2:
163174408-163174408
TGexonicMosaicnonsynonymous SNVNM_022168c.A410Cp.K137T12.72-Lim2017 E
IFIH1     1-0656-003chr2:
163194941-163194941
CTintergenicDe novo--Yuen2017 G
IFIH1     2-1288-003chr2:
163187126-163187126
TCintergenicDe novo--Yuen2017 G
IFIH1     iHART2956chr2:
163144791-163144791
GAexonicPaternalstopgainNM_022168c.C949Tp.Q317X39.04.132E-5Ruzzo2019 G
IFIH1     7-0143-003chr2:
163134096-163134096
GAexonicDe novononsynonymous SNVNM_022168c.C1873Tp.H625Y3.254-Yuen2017 G
IFIH1     iHART2280chr2:
163144671-163144671
CAexonicPaternalstopgainNM_022168c.G1069Tp.G357X41.08.276E-6Ruzzo2019 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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