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SGSH, 9-BP DEL, NT1307

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
May 1, 1997
Accession:
VCV000005115.1
Variation ID:
5115
Description:
deletion
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SGSH, 9-BP DEL, NT1307

Allele ID
20154
Variant type
Deletion
Variant length
-
Cytogenetic location
17q25.3
Genomic location
-
HGVS
-
Protein change
-
Other names
9-BP DEL, NT1307
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 605270.0007
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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 May 1, 1997 RCV000005422.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SGSH - - GRCh38
GRCh37
410 636

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 01, 1997)
no assertion criteria provided
Method: literature only
MUCOPOLYSACCHARIDOSIS, TYPE IIIA
Allele origin: germline
OMIM
Accession: SCV000025604.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Molecular defects in Sanfilippo syndrome type A. Blanch L Human molecular genetics 1997 PMID: 9158154

Record last updated Mar 07, 2021