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NM_000487.6(ARSA):c.94G>C (p.Asp32His) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000059000.1

Allele description [Variation Report for NM_000487.6(ARSA):c.94G>C (p.Asp32His)]

NM_000487.6(ARSA):c.94G>C (p.Asp32His)

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.94G>C (p.Asp32His)
HGVS:
  • NC_000022.11:g.50627686C>G
  • NG_009260.2:g.5494G>C
  • NM_000487.6:c.94G>CMANE SELECT
  • NM_001085425.3:c.94G>C
  • NM_001085426.3:c.94G>C
  • NM_001085427.3:c.94G>C
  • NM_001085428.3:c.-35+260G>C
  • NM_001362782.2:c.-34-280G>C
  • NP_000478.3:p.Asp32His
  • NP_001078894.2:p.Asp32His
  • NP_001078895.2:p.Asp32His
  • NP_001078896.2:p.Asp32His
  • NC_000022.10:g.51066114C>G
  • NM_000487.5:c.94G>C
Protein change:
D32H
Links:
UniProtKB/Swiss-Prot: VAR_054166; dbSNP: rs199476340
NCBI 1000 Genomes Browser:
rs199476340
Molecular consequence:
  • NM_001085428.3:c.-35+260G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362782.2:c.-34-280G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000487.6:c.94G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.94G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.94G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.94G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090521UniProtKB/Swiss-Prot
no classification provided
not providednot providednot provided

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

Help

Summary from all submissions

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

Citations

PubMed

Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.

Grossi S, Regis S, Rosano C, Corsolini F, Uziel G, Sessa M, Di Rocco M, Parenti G, Deodato F, Leuzzi V, Biancheri R, Filocamo M.

Hum Mutat. 2008 Nov;29(11):E220-30. doi: 10.1002/humu.20851.

PubMed [citation]
PMID:
18693274

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090521.1

#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: Apr 23, 2022