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NM_000199.5(SGSH):c.734G>A (p.Arg245His) AND Mucopolysaccharidosis

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001030817.10

Allele description [Variation Report for NM_000199.5(SGSH):c.734G>A (p.Arg245His)]

NM_000199.5(SGSH):c.734G>A (p.Arg245His)

Genes:
CARD14:caspase recruitment domain family member 14 [Gene - OMIM - HGNC]
SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
HGVS:
  • NC_000017.11:g.80213815C>T
  • NG_008229.1:g.11586G>A
  • NM_000199.5:c.734G>AMANE SELECT
  • NM_001352921.3:c.734G>A
  • NM_001352922.2:c.734G>A
  • NP_000190.1:p.Arg245His
  • NP_000190.1:p.Arg245His
  • NP_001339850.1:p.Arg245His
  • NP_001339851.1:p.Arg245His
  • NC_000017.10:g.78187614C>T
  • NM_000199.3:c.734G>A
  • NM_000199.4:c.734G>A
  • NR_148201.2:n.648G>A
  • P51688:p.Arg245His
Protein change:
R245H; ARG245HIS
Links:
UniProtKB: P51688#VAR_007411; OMIM: 605270.0001; dbSNP: rs104894635
NCBI 1000 Genomes Browser:
rs104894635
Molecular consequence:
  • NM_000199.5:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352921.3:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352922.2:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148201.2:n.648G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mucopolysaccharidosis (MPS)
Synonyms:
Mucopolysaccharidoses
Identifiers:
MONDO: MONDO:0019249; MeSH: D009083; MedGen: C0026703; OMIM: PS607014

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001194306GeneReviews
no classification provided
not providedgermlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands.

Rady PL, Surendran S, Vu AT, Hawkins JC, Michals-Matalon K, Tyring SK, Merren J, Kumar AK, Matalon R.

Genet Test. 2002 Fall;6(3):211-5.

PubMed [citation]
PMID:
12490062

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

Meyer A, Kossow K, Gal A, Steglich C, Mühlhausen C, Ullrich K, Braulke T, Muschol N.

Hum Mutat. 2008 May;29(5):770. doi: 10.1002/humu.20738.

PubMed [citation]
PMID:
18407553
See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV001194306.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024