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Results for "HELB"

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
HELB     11382.p1chr12:
66715718-66715718
GTintronicMosaic--Dou2017 E
HELB     AU1355301chr12:
66723169-66723169
TAintronicDe novo--Yuen2017 G
HELB     iHART2646chr12:
66703995-66703995
GAexonicPaternalstopgainNM_033647c.G1287Ap.W429X20.24.945E-5Ruzzo2019 G
HELB     iHART2648chr12:
66703995-66703995
GAexonicPaternalstopgainNM_033647c.G1287Ap.W429X20.24.945E-5Ruzzo2019 G
HELB     iHART1513chr12:
66717779-66717819
CTTGTTTTTGGAATTGGTGATAAAATTTGTTGTACCAGGAACexonicMaternalframeshift deletionNM_033647c.2315_2354delp.L772fs-2.472E-5Ruzzo2019 G
HELB     2-0019-004chr12:
66708690-66708690
TCintronicDe novo--Yuen2017 G
HELB     AU1355301chr12:
66723178-66723183
GTAATAGTAintronicDe novo--Yuen2017 G
HELB     AU1355301chr12:
66723185-66723185
ACintronicDe 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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