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NM_000187.4(HGD):c.1189-41_1248del AND Alkaptonuria

Germline classification:
Pathogenic (1 submission)
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:
RCV003336659.2

Allele description [Variation Report for NM_000187.4(HGD):c.1189-41_1248del]

NM_000187.4(HGD):c.1189-41_1248del

Gene:
HGD:homogentisate 1,2-dioxygenase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q13.33
Genomic location:
Preferred name:
NM_000187.4(HGD):c.1189-41_1248del
HGVS:
  • NC_000003.12:g.120628470_120628570del
  • NG_011957.1:g.58912_59012del
  • NM_000187.4:c.1189-41_1248delMANE SELECT
  • NC_000003.11:g.120347317_120347417del
Molecular consequence:
  • NM_000187.4:c.1189-41_1248del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Alkaptonuria (AKU)
Synonyms:
Alcaptonuria; Ochronosis, hereditary; Homogentisic acid oxidase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008753; MedGen: C0002066; Orphanet: 56; OMIM: 203500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004046736Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences
no assertion criteria provided
Pathogenicgermlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes63not providednot providedyesresearch

Citations

PubMed

Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.

Ascher DB, Spiga O, Sekelska M, Pires DEV, Bernini A, Tiezzi M, Kralovicova J, Borovska I, Soltysova A, Olsson B, Galderisi S, Cicaloni V, Ranganath L, Santucci A, Zatkova A.

Eur J Hum Genet. 2019 Jun;27(6):888-902. doi: 10.1038/s41431-019-0354-0. Epub 2019 Feb 8.

PubMed [citation]
PMID:
30737480
PMCID:
PMC6777518

Details of each submission

From Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences, SCV004046736.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providedyesresearch PubMed (1)

Description

The variant was originally described in PMID:30737480. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00204).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not provided3not provided

Last Updated: Nov 11, 2023