NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 12, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000078455.4

Allele description [Variation Report for NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)]

NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)

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.2021G>A (p.Arg674His)
HGVS:
  • NC_000017.11:g.42544027G>A
  • NG_011552.1:g.13095G>A
  • NM_000263.4:c.2021G>AMANE SELECT
  • NP_000254.2:p.Arg674His
  • NP_000254.2:p.Arg674His
  • NP_000254.2:p.Arg674His
  • NC_000017.10:g.40696045G>A
  • NM_000263.3:c.2021G>A
  • P54802:p.Arg674His
Protein change:
R674H; ARG674HIS
Links:
UniProtKB: P54802#VAR_005014; OMIM: 609701.0001; dbSNP: rs104894590
NCBI 1000 Genomes Browser:
rs104894590
Molecular consequence:
  • NM_000263.4:c.2021G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110311EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Nov 12, 2013)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

NAGLU mutations underlying Sanfilippo syndrome type B.

Schmidtchen A, Greenberg D, Zhao HG, Li HH, Huang Y, Tieu P, Zhao HZ, Cheng S, Zhao Z, Whitley CB, Di Natale P, Neufeld EF.

Am J Hum Genet. 1998 Jan;62(1):64-9.

PubMed [citation]
PMID:
9443878
PMCID:
PMC1376809

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Beesley CE, Young EP, Vellodi A, Winchester BG.

J Med Genet. 1998 Nov;35(11):910-4.

PubMed [citation]
PMID:
9832037
PMCID:
PMC1051483

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000110311.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 20, 2021

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