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HK1, 96-BP DEL

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jan 1, 1995
Accession:
VCV000014915.1
Variation ID:
14915
Description:
deletion
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HK1, 96-BP DEL

Allele ID
29954
Variant type
Deletion
Variant length
-
Cytogenetic location
10q22
Genomic location
-
HGVS
-
Protein change
-
Other names
96-BP DEL
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 142600.0001
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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 Jan 1, 1995 RCV000016050.27
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HK1 - - GRCh38
GRCh37
223 237

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Jan 01, 1995)
no assertion criteria provided
Method: literature only
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000036317.3
Submitted: (Dec 30, 2010)
Publications:
PubMed (1)
PubMed: 7655856
Comment on evidence:
In a patient with nonspherocytic hemolytic anemia with the so-called HK-Melzo variant of hexokinase deficiency (235700), Bianchi and Magnani (1995) demonstrated compound heterozygosity for mutations … (more)

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
Hexokinase mutations that produce nonspherocytic hemolytic anemia. Bianchi M Blood cells, molecules & diseases 1995 PMID: 7655856

Record last updated Jun 14, 2021