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HMOX1, (GT)n REPEAT

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Interpretation:
risk factor​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jun 1, 2008
Accession:
VCV000015897.1
Variation ID:
15897
Description:
variation
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HMOX1, (GT)n REPEAT

Allele ID
30936
Variant type
Variation
Variant length
-
Cytogenetic location
22q12
Genomic location
-
HGVS
-
Protein change
-
Other names
HMOX1, (GT)n REPEAT
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 141250.0003
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
risk factor 1 no assertion criteria provided Jun 1, 2008 RCV000017243.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HMOX1 - - GRCh38
GRCh37
34 55

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
risk factor
(Jun 01, 2008)
no assertion criteria provided
Method: literature only
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SUSCEPTIBILITY TO
Allele origin: germline
OMIM
Accession: SCV000037515.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (3)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Heme oxygenase 1 variations and lung function decline in smokers: proof of replication. Siedlinski M Journal of medical genetics 2008 PMID: 18519631
Association of lung function decline with the heme oxygenase-1 gene promoter microsatellite polymorphism in a general population sample. Results from the European Community Respiratory Health Survey (ECRHS), France. Guénégou A Journal of medical genetics 2006 PMID: 16882737
Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. Yamada N American journal of human genetics 2000 PMID: 10631150

Record last updated Jun 17, 2019