NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla) AND Mucopolysaccharidosis, MPS-III-B

Clinical significance:Uncertain significance (Last evaluated: May 17, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000667105.1

Allele description [Variation Report for NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla)]

NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla)

Gene:
NAGLU:N-acetyl-alpha-glucosaminidase [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla)
HGVS:
  • NC_000017.11:g.42536474_42536475insCCG
  • NG_011552.1:g.5542_5543insCCG
  • NM_000263.4:c.202_203insCCGMANE SELECT
  • NP_000254.2:p.Gly68_Gly69insAla
  • NC_000017.10:g.40688492_40688493insCCG
  • NM_000263.3:c.202_203insCCG
Links:
dbSNP: rs1469781984
NCBI 1000 Genomes Browser:
rs1469781984
Molecular consequence:
  • NM_000263.4:c.202_203insCCG - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV000791503Counsylcriteria provided, single submitter
Uncertain significance
(May 17, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000791503.1

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

Last Updated: Nov 27, 2021

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