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Results for "ADAMTS19"

Variant Events: 17

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
ADAMTS19     1-0051-005chr5:
128912488-128912488
AGintronicDe novo--Yuen2017 G
ADAMTS19     AU4032305chr5:
129079909-129079909
GAintergenicDe novo--Yuen2017 G
ADAMTS19     1-0563-003chr5:
128903896-128903896
GAintronicDe novo--Yuen2017 G
ADAMTS19     2-1461-003chr5:
128975429-128975429
TAintronicDe novo--Yuen2016 G
Yuen2017 G
ADAMTS19     AU1640302chr5:
129011854-129011854
CAintronicDe novo--Yuen2017 G
ADAMTS19     AU4188302chr5:
129076292-129076292
GTintergenicDe novo--Yuen2017 G
ADAMTS19     2-1383-003chr5:
129046596-129046596
AGintronicDe novo--Yuen2017 G
ADAMTS19     2-0223-003chr5:
128914246-128914246
GAintronicDe novo--Yuen2017 G
ADAMTS19     1-0568-003chr5:
128908512-128908512
TAintronicDe novo--Yuen2017 G
ADAMTS19     AU4273304chr5:
128904510-128904510
GTintronicDe novo--Yuen2017 G
ADAMTS19     SP0024711chr5:
129015502-129015502
TCexonicDe novononsynonymous SNVNM_133638c.T2534Cp.I845T20.48.245E-6Feliciano2019 E
ADAMTS19     AU4223302chr5:
129038807-129038807
CAintronicDe novo--Yuen2017 G
ADAMTS19     AU4433301chr5:
128975602-128975602
TCintronicDe novo--Yuen2017 G
ADAMTS19     G01-GEA-149-HIchr5:
129015434-129015434
TTATAintronicDe novo--Satterstrom2020 E
ADAMTS19     1-0906-003chr5:
128952103-128952103
CGintronicDe novo--Yuen2017 G
ADAMTS19     1-0990-003chr5:
129009123-129009126
GTTTGTintronicDe novo--Yuen2017 G
ADAMTS19     2-0149-004chr5:
129063787-129063787
TCintronicDe 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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