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COL17A1, 2-BP DEL, 520AG

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Sep 1, 1998
Accession:
VCV000017654.1
Variation ID:
17654
Description:
deletion
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COL17A1, 2-BP DEL, 520AG

Allele ID
32693
Variant type
Deletion
Variant length
-
Cytogenetic location
10q24.3
Genomic location
-
HGVS
-
Protein change
-
Other names
2-BP DEL, 520AG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 113811.0010
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 1, 1998 RCV000019222.27
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL17A1 - - GRCh38
GRCh37
144 165

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 01, 1998)
no assertion criteria provided
Method: literature only
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
Allele origin: germline
OMIM
Accession: SCV000039510.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa. Floeth M The Journal of investigative dermatology 1998 PMID: 9740252

Record last updated Jun 17, 2019