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SLC37A4, 4-BP DEL, 2-BP INS, NT1094

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jul 20, 1998
Accession:
VCV000006924.1
Variation ID:
6924
Description:
indel
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SLC37A4, 4-BP DEL, 2-BP INS, NT1094

Allele ID
21963
Variant type
Indel
Variant length
-
Cytogenetic location
11q23
Genomic location
-
HGVS
-
Protein change
-
Other names
4-BP DEL, 2-BP INS, NT1094
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 602671.0004
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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 Jul 20, 1998 RCV000007333.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC37A4 - - GRCh38
GRCh38
GRCh37
686 719

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 20, 1998)
no assertion criteria provided
Method: literature only
GLYCOGEN STORAGE DISEASE Ib
Allele origin: germline
OMIM
Accession: SCV000027531.2
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 analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. Kure S Biochemical and biophysical research communications 1998 PMID: 9675154

Record last updated Jan 01, 2021