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Results for "AASS"

Variant Events: 14

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
AASS     2-1173-003chr7:
121737423-121737423
TCintronicDe novo--Yuen2017 G
AASS     1-0150-004chr7:
121904622-121904622
TTTGintergenicDe novo--Yuen2017 G
AASS     AU018010chr7:
121737428-121737430
ATTATTTTTTintronicDe novo--Yuen2017 G
AASS     AU3764302chr7:
121873418-121873418
TCintergenicDe novo--Yuen2017 G
AASS     1-0402-004chr7:
121902569-121902569
CTintergenicDe novo--Yuen2017 G
AASS     12793.p1chr7:
121766464-121766464
CAexonicDe novononsynonymous SNVNM_005763c.G437Tp.R146L33.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Turner2016 G
Turner2017 G
AASS     2-0198-004chr7:
121898202-121898202
GAintergenicDe novo--Yuen2017 G
AASS     2-0198-005chr7:
121898202-121898202
GAintergenicDe novo--Yuen2017 G
AASS     3-0140-000chr7:
121887948-121887948
GAintergenicDe novo--Yuen2017 G
AASS     AU3997301chr7:
121729905-121729905
CTintronicDe novo--Yuen2017 G
AASS     AU2427303chr7:
121914581-121914581
ATintergenicDe novo--Yuen2017 G
AASS     2-1134-003chr7:
121886768-121886768
GAintergenicDe novo--Yuen2017 G
AASS     2-0198-003chr7:
121898202-121898202
GAintergenicDe novo--Yuen2017 G
AASS     2-1729-003chr7:
121853232-121853232
AGintergenicDe 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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