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NM_000169.3(GLA):c.125_137del (p.Met42fs) AND Fabry disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 1991
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000011496.4

Allele description [Variation Report for NM_000169.3(GLA):c.125_137del (p.Met42fs)]

NM_000169.3(GLA):c.125_137del (p.Met42fs)

Genes:
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_000169.3(GLA):c.125_137del (p.Met42fs)
HGVS:
  • NC_000023.11:g.101407769_101407781del
  • NG_007119.1:g.5185_5197del
  • NG_016327.1:g.4567_4579del
  • NM_000169.3:c.125_137delMANE SELECT
  • NM_001199973.2:c.301-4167_301-4155del
  • NM_001199974.2:c.178-4167_178-4155del
  • NP_000160.1:p.Met42fs
  • NP_000160.1:p.Met42fs
  • LRG_672t1:c.125_137del
  • LRG_672:g.5185_5197del
  • LRG_672p1:p.Met42fs
  • NC_000023.10:g.100662757_100662769del
  • NM_000169.2:c.125_137del
  • NR_164783.1:n.147_159del
Protein change:
M42fs
Links:
LOVD 3: GLA_000442; OMIM: 300644.0037; dbSNP: rs1603047806
NCBI 1000 Genomes Browser:
rs1603047806
Molecular consequence:
  • NM_000169.3:c.125_137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001199973.2:c.301-4167_301-4155del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199974.2:c.178-4167_178-4155del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_164783.1:n.147_159del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Fabry disease
Synonyms:
Angiokeratoma, diffuse; Anderson-Fabry disease; Hereditary dystopic lipidosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010526; MedGen: C0002986; Orphanet: 324; OMIM: 301500; Human Phenotype Ontology: HP:0001071

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031728OMIM
no assertion criteria provided
Pathogenic
(May 1, 1991) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes.

Ishii S, Sakuraba H, Shimmoto M, Minamikawa-Tachino R, Suzuki T, Suzuki Y.

Ann Neurol. 1991 May;29(5):560-4.

PubMed [citation]
PMID:
1650161

Details of each submission

From OMIM, SCV000031728.2

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

Description

In a Japanese patient with severe Fabry disease (301500), Ishii et al. (1991) identified a 13-bp deletion in exon 1 of the GLA gene. The deletion is flanked by a TGGG direct repeat.

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

Last Updated: Apr 15, 2024