NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) AND not provided

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000058986.1

Allele description [Variation Report for NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)]

NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)
HGVS:
  • NC_000022.11:g.50626249C>T
  • NG_009260.2:g.6931G>A
  • NM_000487.6:c.884G>AMANE SELECT
  • NM_001085425.3:c.884G>A
  • NM_001085426.3:c.884G>A
  • NM_001085427.3:c.884G>A
  • NM_001085428.3:c.626G>A
  • NM_001362782.2:c.626G>A
  • NP_000478.3:p.Gly295Asp
  • NP_001078894.2:p.Gly295Asp
  • NP_001078895.2:p.Gly295Asp
  • NP_001078896.2:p.Gly295Asp
  • NP_001078897.1:p.Gly209Asp
  • NP_001349711.1:p.Gly209Asp
  • NC_000022.10:g.51064677C>T
  • NM_000487.5:c.884G>A
Protein change:
G209D
Links:
UniProtKB/Swiss-Prot: VAR_054193; dbSNP: rs199476387
NCBI 1000 Genomes Browser:
rs199476387
Molecular consequence:
  • NM_000487.6:c.884G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.884G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.884G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.884G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090507UniProtKB/Swiss-Protno assertion providednot providednot providednot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.

Gallo S, Randi D, Bertelli M, Salviati A, Pandolfo M.

J Neurol Neurosurg Psychiatry. 2004 Apr;75(4):655-7.

PubMed [citation]
PMID:
15026521
PMCID:
PMC1739033

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090507.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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