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Results for "HOXA1"

Variant Events: 10

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
HOXA1     Schaaf2011:32chr7:
27135297-27135297
TCexonicUnknownnonsynonymous SNVNM_005522
NM_153620
c.A235G
c.A235G
p.T79A
p.T79A
10.061.65E-5Schaaf2011 T
HOXA1     Schaaf2011:96chr7:
27135338-27135338
TTTGGTGGexonicUnknownnonframeshift insertionNM_005522
NM_153620
c.193_194insCCACCA
c.193_194insCCACCA
p.H65delinsPTN
p.H65delinsPTN
--Schaaf2011 T
HOXA1     AU4235301chr7:
27134376-27134376
CTexonicDe novononsynonymous SNVNM_005522c.G691Ap.A231T2.5568.239E-6Yuen2017 G
HOXA1     Schaaf2011:33chr7:
27135349-27135349
GCexonicDe novononsynonymous SNVNM_005522
NM_153620
c.C183G
c.C183G
p.I61M
p.I61M
4.0021.667E-5Schaaf2011 T
HOXA1     Schaaf2011:97chr7:
27135337-27135342
GTGGGGGexonicUnknownframeshift deletionNM_005522
NM_153620
c.190_194del
c.190_194del
p.P64fs
p.P64fs
--Schaaf2011 T
HOXA1     Schaaf2011:102chr7:
27134097-27134098
CCCexonicUnknownframeshift deletionNM_005522c.969delGp.P323fs--Schaaf2011 T
HOXA1     Schaaf2011:100chr7:
27135331-27135340
GTGGTGGTGGGexonicUnknownnonframeshift deletionNM_005522
NM_153620
c.192_200del
c.192_200del
p.64_67del
p.64_67del
--Schaaf2011 T
HOXA1     Schaaf2011:94chr7:
27135337-27135340
GTGGGexonicDe novononframeshift deletionNM_005522
NM_153620
c.192_194del
c.192_194del
p.64_65del
p.64_65del
--Schaaf2011 T
HOXA1     Schaaf2011:31chr7:
27135147-27135147
CAexonicUnknownnonsynonymous SNVNM_005522c.G385Tp.A129S8.9934.943E-5Schaaf2011 T
HOXA1     Schaaf2011:95chr7:
27135338-27135338
TTTGGexonicUnknownnonframeshift insertionNM_005522
NM_153620
c.193_194insCCA
c.193_194insCCA
p.H65delinsPN
p.H65delinsPN
--Schaaf2011 T
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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