NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) AND Mucopolysaccharidosis, MPS-III-B

Clinical significance:Uncertain significance (Last evaluated: Aug 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000668600.1

Allele description [Variation Report for NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)]

NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)

Gene:
NAGLU:N-acetyl-alpha-glucosaminidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)
HGVS:
  • NC_000017.11:g.42541185G>T
  • NG_011552.1:g.10253G>T
  • NM_000263.4:c.1000G>TMANE SELECT
  • NP_000254.2:p.Val334Phe
  • NC_000017.10:g.40693203G>T
  • NM_000263.3:c.1000G>T
Protein change:
V334F
Links:
dbSNP: rs749140168
NCBI 1000 Genomes Browser:
rs749140168
Molecular consequence:
  • NM_000263.4:c.1000G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-III-B (MPS3B)
Synonyms:
NAGLU DEFICIENCY; Mucopoly-saccharidosis type 3B; Sanfilippo syndrome B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009656; MedGen: C0086648; OMIM: 252920

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000793229Counsylcriteria provided, single submitter
Uncertain significance
(Aug 7, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.

Weber B, Guo XH, Kleijer WJ, van de Kamp JJ, Poorthuis BJ, Hopwood JJ.

Eur J Hum Genet. 1999 Jan;7(1):34-44.

PubMed [citation]
PMID:
10094189

Details of each submission

From Counsyl, SCV000793229.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 14, 2021

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