NM_000404.4(GLB1):c.734-8A>G AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Sep 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000669168.1

Allele description [Variation Report for NM_000404.4(GLB1):c.734-8A>G]

NM_000404.4(GLB1):c.734-8A>G

Gene:
GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.3
Genomic location:
Preferred name:
NM_000404.4(GLB1):c.734-8A>G
HGVS:
  • NC_000003.12:g.33053557T>C
  • NG_009005.1:g.48646A>G
  • NM_000404.4:c.734-8A>GMANE SELECT
  • NM_001079811.3:c.644-8A>G
  • NM_001135602.3:c.341-8A>G
  • NM_001317040.2:c.878-8A>G
  • NM_001393580.1:c.734-8A>G
  • NC_000003.11:g.33095049T>C
  • NM_000404.2:c.734-8A>G
Links:
dbSNP: rs398123357
NCBI 1000 Genomes Browser:
rs398123357
Molecular consequence:
  • NM_000404.4:c.734-8A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001079811.3:c.644-8A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001135602.3:c.341-8A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317040.2:c.878-8A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001393580.1:c.734-8A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
GM1 gangliosidosis type 2 (GM1G2)
Synonyms:
GM1-GANGLIOSIDOSIS, TYPE II; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II; Gangliosidosis, generalized GM1, juvenile type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009261; MedGen: C0268272; Orphanet: 354; Orphanet: 79256; OMIM: 230600
Name:
GM1 gangliosidosis type 3 (GM1G3)
Synonyms:
GM1-GANGLIOSIDOSIS, TYPE III; GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE; GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009262; MedGen: C0268273; OMIM: 230650
Name:
Mucopolysaccharidosis, MPS-IV-B (MPS4B)
Synonyms:
MPS IVB; Morquio syndrome B; MPS 4B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009660; MedGen: C0086652; Orphanet: 582; OMIM: 253010
Name:
Infantile GM1 gangliosidosis (GM1G1)
Synonyms:
Gangliosidosis, Generalized GM1, Type 1; GM1 gangliosidosis type 1; GM1-gangliosidosis, type I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009260; MedGen: C0268271; Orphanet: 354; OMIM: 230500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000793890Counsylcriteria provided, single submitter
Uncertain significance
(Sep 12, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, Poorthuis BJ, Michelakakis H, Plecko B, Paschke E.

Clin Genet. 2010 Sep;78(3):236-46. doi: 10.1111/j.1399-0004.2010.01379.x. Epub 2010 Feb 11.

PubMed [citation]
PMID:
20175788

Details of each submission

From Counsyl, SCV000793890.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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