NM_000181.4(GUSB):c.1790-18dup AND Mucopolysaccharidosis type 7

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000299982.2

Allele description [Variation Report for NM_000181.4(GUSB):c.1790-18dup]

NM_000181.4(GUSB):c.1790-18dup

Gene:
GUSB:glucuronidase beta [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q11.21
Genomic location:
Preferred name:
NM_000181.4(GUSB):c.1790-18dup
HGVS:
  • NC_000007.14:g.65961081dup
  • NG_016197.1:g.26247dup
  • NG_051954.1:g.92983dup
  • NM_000181.4:c.1790-18dupMANE SELECT
  • NM_001284290.2:c.1352-18dup
  • NM_001293104.2:c.1220-18dup
  • NM_001293105.2:c.1133-18dup
  • NC_000007.13:g.65426068dup
  • NM_000181.3:c.1790-5dupT
Links:
dbSNP: rs750022485
NCBI 1000 Genomes Browser:
rs750022485
Molecular consequence:
  • NM_000181.4:c.1790-18dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001284290.2:c.1352-18dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293104.2:c.1220-18dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293105.2:c.1133-18dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000469756Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000469756.2

#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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