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Results for "MYRFL"

Variant Events: 18

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
MYRFL     1-0514-003chr12:
70403256-70403256
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
MYRFL     AU4306302chr12:
70365911-70365911
CTintergenicDe novo--Yuen2017 G
MYRFL     AU4327303chr12:
70583441-70583441
GCintergenicDe novo--Yuen2017 G
MYRFL     2-0299-005chr12:
70562704-70562704
CCAAGATintergenicDe novo--Yuen2017 G
MYRFL     AU4056301chr12:
70526030-70526030
GAintergenicDe novo--Yuen2017 G
MYRFL     AU4067303chr12:
70288224-70288224
AGintronicDe novo--Yuen2017 G
MYRFL     AU1635302chr12:
70593887-70593887
TCintergenicDe novo--Yuen2017 G
MYRFL     1-0488-003chr12:
70296723-70296723
CTintronicDe novo--Yuen2017 G
MYRFL     AU066404chr12:
70503644-70503648
TAGGATAintergenicDe novo--Yuen2017 G
MYRFL     2-0210-005chr12:
70606942-70606942
AGintergenicDe novo--Yuen2017 G
MYRFL     2-1561-003chr12:
70556466-70556466
TCintergenicDe novo--Yuen2017 G
MYRFL     2-1562-004chr12:
70282608-70282608
CAintronicDe novo--Yuen2017 G
MYRFL     AU4093302chr12:
70484536-70484537
ATAintergenicDe novo--Yuen2017 G
MYRFL     AU2495302chr12:
70309406-70309406
AGintronicDe novo--Yuen2017 G
MYRFL     AU4231301chr12:
70376928-70376928
CTintergenicDe novo--Yuen2017 G
MYRFL     2-1155-003chr12:
70245324-70245324
AGintronicDe novo--Yuen2016 G
Yuen2017 G
MYRFL     2-0285-004chr12:
70496709-70496709
AGintergenicDe novo--Yuen2017 G
MYRFL     13775.p1chr12:
70289233-70289233
ATexonicDe novostopgainNM_182530c.A1063Tp.K355X47.0-Wilfert2021 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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