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Results for "HPCAL1"

Variant Events: 9

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
HPCAL1     2-1152-003chr2:
10544997-10544997
GAintronicDe novo--Yuen2016 G
Yuen2017 G
HPCAL1     2-1315-003chr2:
10562029-10562029
GCintronicDe novo--Yuen2017 G
HPCAL1     7-0119-003chr2:
10539716-10539716
CTintronicDe novo--Yuen2017 G
HPCAL1     1-0994-003chr2:
10486198-10486213
CTGTGTGTGTGTGTGTCTGTGTGTGTGTGTintronicDe novo--Yuen2017 G
HPCAL1     AU0636303chr2:
10452811-10452816
ATCACTATintronicDe novo--Yuen2017 G
HPCAL1     7-0223-003chr2:
10487236-10487236
CTintronicDe novo--Yuen2017 G
HPCAL1     AU3051303chr2:
10467704-10467704
GAintronicDe novo--Yuen2017 G
HPCAL1     AU4197301chr2:
10538687-10538687
CTintronicDe novo--Yuen2017 G
HPCAL1     2-1466-003chr2:
10563362-10563362
GTintronicDe 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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