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NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter) AND Fucosidosis

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:
RCV000087086.1

Allele description

NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter)

Gene:
FUCA1:alpha-L-fucosidase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter)
HGVS:
  • NC_000001.11:g.23854539G>A
  • NG_013346.1:g.18831C>T
  • NM_000147.5:c.790C>TMANE SELECT
  • NP_000138.2:p.Arg264Ter
  • NP_000138.2:p.Arg264Ter
  • NC_000001.10:g.24181029G>A
  • NM_000147.4:c.790C>T
  • p.Arg264Stop
Protein change:
R264*
Links:
dbSNP: rs587779399
NCBI 1000 Genomes Browser:
rs587779399
Molecular consequence:
  • NM_000147.5:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Fucosidosis
Synonyms:
Alpha-l-fucosidase deficiency; Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
Identifiers:
MONDO: MONDO:0009254; MedGen: C0016788; Orphanet: 349; OMIM: 230000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000119943Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela
no assertion criteria provided
Pathogenicinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela, SCV000119943.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2022