NM_000169.2(GLA):c.436C>T (p.Pro146Ser) AND Fabry disease

Clinical significance:Pathogenic (Last evaluated: Jun 16, 2017)

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:
RCV000011473.6

Allele description [Variation Report for NM_000169.2(GLA):c.436C>T (p.Pro146Ser)]

NM_000169.2(GLA):c.436C>T (p.Pro146Ser)

Genes:
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_000169.2(GLA):c.436C>T (p.Pro146Ser)
HGVS:
  • NC_000023.11:g.101401743G>A
  • NG_007119.1:g.11221C>T
  • NM_000169.2:c.436C>T
  • NP_000160.1:p.Pro146Ser
  • LRG_672t1:c.436C>T
  • LRG_672:g.11221C>T
  • LRG_672p1:p.Pro146Ser
  • NC_000023.10:g.100656731G>A
  • P06280:p.Pro146Ser
Protein change:
P146S; PRO146SER
Links:
UniProtKB: P06280#VAR_000455; OMIM: 300644.0014; dbSNP: 104894837
NCBI 1000 Genomes Browser:
rs104894837
Molecular consequence:
  • NM_000169.2:c.436C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fabry disease
Synonyms:
Fabry's disease
Identifiers:
MedGen: C0002986; Orphanet: 324; OMIM: 301500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031705OMIMno assertion criteria providedPathogenic
(Jun 16, 2017)
germlineliterature only

deJong, J. G. N., Jansen, P. P. M., van den Berg, C. J. M. G., Hamel, B. C. J., Wevers, R. A., Ploos van Amstel, J. K. Genetic heterogeneity in Fabry's disease: mutations in the alpha-galactosidase A gene. Proceedings of the 2nd International Duodecim Symposium. Molecular Biology of Lysosomal Disease, Majik, Finland 1993.

Summary from all submissions

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

Details of each submission

From OMIM, SCV000031705.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

In a Dutch patient with mild Fabry disease (301500), deJong et al. (1993) found a C-to-T transition in exon 3 of the GLA gene, resulting in a pro146-to-ser (P146S) substitution.

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

Last Updated: Dec 13, 2017