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NM_000188.3(HK1):c.1586T>C (p.Leu529Ser) AND Hemolytic anemia due to hexokinase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1995
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000016051.26

Allele description [Variation Report for NM_000188.3(HK1):c.1586T>C (p.Leu529Ser)]

NM_000188.3(HK1):c.1586T>C (p.Leu529Ser)

Gene:
HK1:hexokinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser)
HGVS:
  • NC_000010.11:g.69384348T>C
  • NG_012077.1:g.119349T>C
  • NM_000188.3:c.1586T>CMANE SELECT
  • NM_001322364.2:c.1598T>C
  • NM_001322365.2:c.1691T>C
  • NM_001322366.1:c.1502T>C
  • NM_001322367.1:c.1490T>C
  • NM_001358263.1:c.1598T>C
  • NM_033496.3:c.1583T>C
  • NM_033497.3:c.1598T>C
  • NM_033498.3:c.1598T>C
  • NM_033500.2:c.1550T>C
  • NP_000179.2:p.Leu529Ser
  • NP_001309293.1:p.Leu533Ser
  • NP_001309294.1:p.Leu564Ser
  • NP_001309295.1:p.Leu501Ser
  • NP_001309296.1:p.Leu497Ser
  • NP_001345192.1:p.Leu533Ser
  • NP_277031.1:p.Leu528Ser
  • NP_277032.1:p.Leu533Ser
  • NP_277033.1:p.Leu533Ser
  • NP_277035.2:p.Leu517Ser
  • LRG_365t1:c.1550T>C
  • LRG_365:g.119349T>C
  • LRG_365p1:p.Leu517Ser
  • NC_000010.10:g.71144104T>C
Protein change:
L497S; LEU529SER
Links:
OMIM: 142600.0002; dbSNP: rs137853249
NCBI 1000 Genomes Browser:
rs137853249
Molecular consequence:
  • NM_000188.3:c.1586T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322364.2:c.1598T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322365.2:c.1691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322366.1:c.1502T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322367.1:c.1490T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001358263.1:c.1598T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033496.3:c.1583T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033497.3:c.1598T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033498.3:c.1598T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033500.2:c.1550T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hemolytic anemia due to hexokinase deficiency
Synonyms:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY; Hexokinase deficiency hemolytic anemia; Non-spherocytic hemolytic anemia due to hexokinase deficiency
Identifiers:
MONDO: MONDO:0009340; MedGen: C3150343; Orphanet: 90031; OMIM: 235700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036318OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1995) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Hexokinase mutations that produce nonspherocytic hemolytic anemia.

Bianchi M, Magnani M.

Blood Cells Mol Dis. 1995;21(1):2-8.

PubMed [citation]
PMID:
7655856

Details of each submission

From OMIM, SCV000036318.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the leu529-to-ser (L529S) mutation in the HK1 gene that was found in compound heterozygous state in a patient with nonspherocytic hemolytic anemia due to hexokinase deficiency (235700) by Bianchi and Magnani (1995), see 142600.0001.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 29, 2022