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Results for "ITSN1"

Variant Events: 20

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
ITSN1     2-0289-003chr21:
35058935-35058935
GAintronicDe novo--Yuen2017 G
ITSN1     AU3951301chr21:
35077345-35077345
GAintronicDe novo--Yuen2017 G
ITSN1     Viggiano2022:105.3chr21:
35169783-35169783
GAexonicMaternalnonsynonymous SNVNM_001001132
NM_003024
c.G2053A
c.G2053A
p.E685K
p.E685K
15.888.237E-6Viggiano2022 GT
ITSN1     12493.p1chr21:
35272133-35272133
CTintergenicDe novo--Turner2016 G
ITSN1     2-1426-003chr21:
35245052-35245052
TAintronicDe novo--Yuen2017 G
ITSN1     1-0252-003chr21:
35235832-35235832
TCintronicDe novo--Yuen2017 G
ITSN1     2-0142-003chr21:
35260516-35260516
GGCexonicDe novoframeshift insertionNM_003024c.5078_5079insCp.G1693fs--Yuen2015 G
ITSN1     2-0307-003chr21:
35117397-35117397
GAintronicDe novo--Yuen2017 G
ITSN1     AU2433302chr21:
35143482-35143482
TCintronicDe novo--Yuen2017 G
ITSN1     DEASD_0027_001chr21:
35260537-35260537
TGexonicDe novononsynonymous SNVNM_003024c.T5099Gp.L1700R28.3-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ITSN1     1-0627-007chr21:
35252167-35252167
AGintronicDe novo--Yuen2017 G
ITSN1     SP0007556chr21:
35258603-35258603
CTexonicDe novononsynonymous SNVNM_003024c.C4856Tp.P1619L27.98.243E-6Feliciano2019 E
ITSN1     2-1501-003chr21:
35165737-35165737
AGintronicDe novo--Yuen2017 G
ITSN1     SP0005166chr21:
35144452-35144452
GAexonicDe novononsynonymous SNVNM_001001132
NM_003024
c.G1130A
c.G1130A
p.R377H
p.R377H
28.21.655E-5Feliciano2019 E
ITSN1     1-0155-003chr21:
35149994-35149994
GCintronicDe novo--Yuen2017 G
ITSN1     1-0969-003chr21:
35045772-35045772
CTintronicDe novo--Yuen2017 G
ITSN1     1-0375-003chr21:
35266418-35266418
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
ITSN1     2-1722-003chr21:
35190684-35190686
CATCexonicDe novoframeshift deletionNM_001001132
NM_003024
c.2842_2843del
c.2842_2843del
p.M948fs
p.M948fs
-8.236E-6Yuen2017 G
ITSN1     iHART3007chr21:
35140024-35140024
CTexonicMaternalstopgainNM_001001132
NM_003024
c.C934T
c.C934T
p.R312X
p.R312X
40.0-Ruzzo2019 G
ITSN1     AU2863302chr21:
35099805-35099805
GTintronicDe 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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