NM_024312.5(GNPTAB):c.3435-1G>A AND Mucopolysaccharidosis, MPS-III-A

Clinical significance:Pathogenic (Last evaluated: May 10, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000031984.3

Allele description [Variation Report for NM_024312.5(GNPTAB):c.3435-1G>A]

NM_024312.5(GNPTAB):c.3435-1G>A

Gene:
GNPTAB:N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_024312.5(GNPTAB):c.3435-1G>A
HGVS:
  • NC_000012.12:g.101753540C>T
  • NG_021243.1:g.82328G>A
  • NM_024312.5:c.3435-1G>AMANE SELECT
  • NC_000012.11:g.102147318C>T
  • NM_024312.4:c.3435-1G>A
Nucleotide change:
AY687932:c.3435-1G>A
Links:
dbSNP: rs281865037
NCBI 1000 Genomes Browser:
rs281865037
Molecular consequence:
  • NM_024312.5:c.3435-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-III-A (MPS3A)
Synonyms:
SULFAMIDASE DEFICIENCY; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009655; MedGen: C0086647; Orphanet: 581; Orphanet: 79269; OMIM: 252900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000054682GeneReviewsno assertion criteria providedpathologic
(May 10, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000054682.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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