NM_000308.3(CTSA):c.448G>A (p.Val150Met) AND Combined deficiency of sialidase AND beta galactosidase

Clinical significance:Pathogenic

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:
RCV000087090.1

Allele description [Variation Report for NM_000308.3(CTSA):c.448G>A (p.Val150Met)]

NM_000308.3(CTSA):c.448G>A (p.Val150Met)

Gene:
CTSA:cathepsin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_000308.3(CTSA):c.448G>A (p.Val150Met)
HGVS:
  • NC_000020.11:g.45892434G>A
  • NG_008291.1:g.6483G>A
  • NM_000308.3:c.448G>A
  • NM_001127695.2:c.394G>A
  • NM_001167594.2:c.397G>A
  • NP_000299.2:p.Val150Met
  • NP_001121167.1:p.Val132Met
  • NP_001161066.1:p.Val133Met
  • NC_000020.10:g.44521073G>A
  • NM_000308.2:c.448G>A
  • NM_001127695.1:c.394G>A
  • NM_001167594.1:c.397G>A
  • NR_133656.1:n.1630G>A
Protein change:
V104M; VAL104MET
Links:
OMIM: 613111.0009; dbSNP: 137854545
NCBI 1000 Genomes Browser:
rs137854545
Allele Frequency:
0.00002(A)
Molecular consequence:
  • NM_000308.3:c.448G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_133656.1:n.1630G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Combined deficiency of sialidase AND beta galactosidase (GSL)
Synonyms:
CATHEPSIN A DEFICIENCY; Galactosialidosis
Identifiers:
MedGen: C0268233; Orphanet: 351; OMIM: 256540

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119947Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostelano assertion criteria providedPathogenicinheritedresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela, SCV000119947.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 27, 2017