NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe) AND Mucopolysaccharidosis, MPS-III-C

Clinical significance:Uncertain significance (Last evaluated: Aug 13, 2020)

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:
RCV001279458.1

Allele description [Variation Report for NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe)]

NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe)

Gene:
HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe)
HGVS:
  • NC_000008.11:g.43178225C>T
  • NG_009552.1:g.42777C>T
  • NM_001363227.2:c.1003C>T
  • NM_001363228.2:c.821-3920C>T
  • NM_001363229.2:c.139C>T
  • NM_152419.3:c.1003C>TMANE SELECT
  • NP_001350156.1:p.Leu335Phe
  • NP_001350158.1:p.Leu47Phe
  • NP_689632.2:p.Leu335Phe
  • NC_000008.10:g.43033368C>T
Protein change:
L335F
Links:
dbSNP: rs369280586
NCBI 1000 Genomes Browser:
rs369280586
Molecular consequence:
  • NM_001363228.2:c.821-3920C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363227.2:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363229.2:c.139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152419.3:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-III-C (MPS3C)
Synonyms:
Mucopoly-saccharidosis type 3C; Sanfilippo syndrome C; Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009657; MedGen: C0086649; Orphanet: 581; Orphanet: 79271; OMIM: 252930

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001466553Natera, Inc.no assertion criteria providedUncertain significance
(Aug 13, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001466553.1

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

Last Updated: Nov 27, 2021

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