NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) AND Mucopolysaccharidosis type 7

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1993)

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:
RCV000000945.4

Allele description [Variation Report for NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)]

NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)

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.1831C>T (p.Arg611Trp)
HGVS:
  • NC_000007.14:g.65961022G>A
  • NG_016197.1:g.26293C>T
  • NG_051954.1:g.92924G>A
  • NM_000181.4:c.1831C>TMANE SELECT
  • NM_001284290.2:c.1393C>T
  • NM_001293104.2:c.1261C>T
  • NM_001293105.2:c.1174C>T
  • NP_000172.2:p.Arg611Trp
  • NP_001271219.1:p.Arg465Trp
  • NP_001280033.1:p.Arg421Trp
  • NP_001280034.1:p.Arg392Trp
  • NC_000007.13:g.65426009G>A
  • NR_120531.2:n.1776C>T
  • P08236:p.Arg611Trp
Protein change:
R392W; ARG611TRP
Links:
UniProtKB: P08236#VAR_003199; OMIM: 611499.0005; dbSNP: rs121918176
NCBI 1000 Genomes Browser:
rs121918176
Molecular consequence:
  • NM_000181.4:c.1831C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001284290.2:c.1393C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293104.2:c.1261C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293105.2:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_120531.2:n.1776C>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
SCV000021095OMIMno assertion criteria providedPathogenic
(Jan 1, 1993)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.

Wu BM, Sly WS.

Hum Mutat. 1993;2(6):446-57.

PubMed [citation]
PMID:
8111413

Details of each submission

From OMIM, SCV000021095.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the arg611-to-trp (R611W) mutation in the GUSB gene that was found in compound heterozygous state in a patient with severe mucopolysaccharidosis type VII (MPS7; 253220) by Wu and Sly (1993), see 611499.0004.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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