NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln) AND Mucopolysaccharidosis, MPS-III-B

Clinical significance:Uncertain significance (Last evaluated: Jul 24, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001593198.1

Allele description [Variation Report for NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)]

NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)

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.2159G>A (p.Arg720Gln)
HGVS:
  • NC_000017.11:g.42544165G>A
  • NG_011552.1:g.13233G>A
  • NM_000263.4:c.2159G>AMANE SELECT
  • NP_000254.2:p.Arg720Gln
  • NC_000017.10:g.40696183G>A
  • NM_000263.3:c.2159G>A
Protein change:
R720Q
Links:
dbSNP: rs774971794
NCBI 1000 Genomes Browser:
rs774971794
Molecular consequence:
  • NM_000263.4:c.2159G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV001815767New York Genome Center - CSER-NYCKidSeqcriteria provided, single submitter
Uncertain significance
(Jul 24, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001815767.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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