NM_000169.3(GLA):c.926C>T (p.Ala309Val) AND Fabry disease

Clinical significance:Uncertain significance (Last evaluated: Jan 1, 2014)

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:
RCV000209571.1

Allele description [Variation Report for NM_000169.3(GLA):c.926C>T (p.Ala309Val)]

NM_000169.3(GLA):c.926C>T (p.Ala309Val)

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_000169.3(GLA):c.926C>T (p.Ala309Val)
HGVS:
  • NC_000023.11:g.101398443G>A
  • NG_007119.1:g.14521C>T
  • NM_000169.3:c.926C>TMANE SELECT
  • NM_001199973.2:c.300+2986G>A
  • NM_001199974.2:c.177+6621G>A
  • NP_000160.1:p.Ala309Val
  • NP_000160.1:p.Ala309Val
  • LRG_672t1:c.926C>T
  • LRG_672:g.14521C>T
  • LRG_672p1:p.Ala309Val
  • NC_000023.10:g.100653431G>A
  • NM_000169.2:c.926C>T
  • NR_164783.1:n.1005C>T
  • P06280:p.Ala309Val
  • p.A309V
Protein change:
A309V
Links:
UniProtKB: P06280#VAR_077406; dbSNP: rs869312155
NCBI 1000 Genomes Browser:
rs869312155
Molecular consequence:
  • NM_001199973.2:c.300+2986G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199974.2:c.177+6621G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000169.3:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164783.1:n.1005C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
effect on protein activity [Variation Ontology: 0053]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000246079Albrecht-Kossel-Institute,Medical University Rostockno assertion criteria providedUncertain significance
(Jan 1, 2014)
inheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, Giese AK, Rolfs A.

Hum Mutat. 2016 Jan;37(1):43-51. doi: 10.1002/humu.22910. Epub 2015 Oct 27.

PubMed [citation]
PMID:
26415523

Details of each submission

From Albrecht-Kossel-Institute,Medical University Rostock, SCV000246079.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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