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Results for "CARTPT"

Variant Events: 13

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
CARTPT     AU076509chr5:
71060981-71060981
GAintergenicDe novo--Yuen2017 G
CARTPT     5-0021-003chr5:
71306358-71306358
TCintergenicDe novo--Yuen2017 G
CARTPT     7-0024-003chr5:
71133390-71133391
GCGintergenicDe novo--Yuen2017 G
CARTPT     AU4483301chr5:
71246954-71246954
CTintergenicDe novo--Yuen2017 G
CARTPT     AU024104 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
CARTPT     11729.p1chr5:
71199856-71199856
GTintergenicDe novo--Wilfert2021 G
CARTPT     2-1508-003chr5:
71065570-71065570
GTintergenicDe novo--Yuen2017 G
CARTPT     11376.p1chr5:
71308862-71308862
AATintergenicUnknown--Werling2018 G
CARTPT     1-0175-003chr5:
71265563-71265568
AGAGATAintergenicDe novo--Yuen2017 G
CARTPT     7-0032-003chr5:
71218620-71218620
GAintergenicDe novo--Yuen2017 G
CARTPT     AU4273304chr5:
71020448-71020453
GTTTTTGTTTTintergenicDe novo--Yuen2017 G
CARTPT     AU3764302chr5:
71221957-71221957
CAintergenicDe novo--Yuen2017 G
CARTPT     1-0175-004chr5:
71265563-71265568
AGAGATAintergenicDe 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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