NM_000181.4(GUSB):c.530C>T (p.Thr177Ile) AND Mucopolysaccharidosis type 7

Clinical significance:Pathogenic

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:
RCV000087087.1

Allele description [Variation Report for NM_000181.4(GUSB):c.530C>T (p.Thr177Ile)]

NM_000181.4(GUSB):c.530C>T (p.Thr177Ile)

Gene:
GUSB:glucuronidase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.21
Genomic location:
Preferred name:
NM_000181.4(GUSB):c.530C>T (p.Thr177Ile)
HGVS:
  • NC_000007.14:g.65979778G>A
  • NG_016197.1:g.7537C>T
  • NM_000181.4:c.530C>TMANE SELECT
  • NM_001284290.2:c.474+56C>T
  • NM_001293104.2:c.12-237C>T
  • NM_001293105.2:c.67+446C>T
  • NP_000172.2:p.Thr177Ile
  • NC_000007.13:g.65444765G>A
  • NM_000181.3:c.530C>T
  • NR_120531.2:n.560C>T
  • p.Thr.177Ile
Protein change:
T177I
Links:
dbSNP: rs587779400
NCBI 1000 Genomes Browser:
rs587779400
Molecular consequence:
  • NM_001284290.2:c.474+56C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293104.2:c.12-237C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293105.2:c.67+446C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000181.4:c.530C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_120531.2:n.560C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mucopolysaccharidosis type 7 (MPS7)
Synonyms:
MPS VII; Mucopolysaccharidosis type VII; MPS 7; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009662; MedGen: C0085132; Orphanet: 584; OMIM: 253220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119944Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostelano assertion criteria providedPathogenicinheritedresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela, SCV000119944.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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