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Results for "ITIH2"

Variant Events: 8

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
ITIH2     1-0441-003chr10:
7764216-7764216
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ITIH2     iHART2186chr10:
7780709-7780711
CATCexonicPaternalframeshift deletionNM_002216c.2084_2085delp.H695fs-4.246E-5Ruzzo2019 G
ITIH2     iHART2188chr10:
7780709-7780711
CATCexonicPaternalframeshift deletionNM_002216c.2084_2085delp.H695fs-4.246E-5Ruzzo2019 G
ITIH2     Al-Mubarak2017:ASD-69chr10:
7776959-7776959
TTTATTexonicUnknownframeshift insertionNM_002216c.1862_1863insTATTp.I621fs--Al-Mubarak2017 E
ITIH2     2-1355-004chr10:
7788934-7788934
AGintronicDe novo--Yuen2017 G
ITIH2     iHART1470chr10:
7751155-7751155
GCsplicingPaternalsplicing25.66.0E-4Ruzzo2019 G
ITIH2     11910.p1chr10:
7748800-7748800
GAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
ITIH2     2-1357-004chr10:
7789344-7789344
CCATTGTATGTTATGTTAintronicDe 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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