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Results for "INVS"

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
INVS     Li2017:18917chr9:
103002355-103002355
CCAexonicUnknownframeshift insertionNM_014425
NM_183245
c.630dupA
c.630dupA
p.T210fs
p.T210fs
--Li2017 T
INVS     A21chr9:
103002356-103002356
AAAexonicDe novoframeshift insertionNM_014425
NM_183245
c.630dupA
c.630dupA
p.T210fs
p.T210fs
--Wu2018 G
INVS     2-1261-003chr9:
102971459-102971459
ATintronicDe novo--Yuen2017 G
INVS     AU3713302chr9:
103060909-103060909
CTintronicDe novo--Yuen2017 G
INVS     09C85773Achr9:
102866937-102866937
TGintronicDe novo--Kosmicki2017 E
INVS     AU3397302chr9:
103016062-103016062
GAintronicDe novo--Yuen2017 G
INVS     iHART2949chr9:
103035300-103035300
CTexonicPaternalstopgainNM_014425
NM_183245
c.C1726T
c.C1726T
p.R576X
p.R576X
39.0-Ruzzo2019 G
INVS     iHART2948chr9:
103035300-103035300
CTexonicPaternalstopgainNM_014425
NM_183245
c.C1726T
c.C1726T
p.R576X
p.R576X
39.0-Ruzzo2019 G
INVS     AU072504chr9:
102996014-102996014
GAintronicDe novo--Yuen2017 G
INVS     Li2017:33chr9:
103002355-103002355
CCAexonicUnknownframeshift insertionNM_014425
NM_183245
c.630dupA
c.630dupA
p.T210fs
p.T210fs
--Li2017 T
INVS     1-0158-012chr9:
103012026-103012026
TAintronicDe 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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