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NM_000487.5(ARSA):c.*96A>G AND not provided

Germline classification:
not provided (1 submission)
Last evaluated:
Jun 13, 2014
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:
RCV000180167.1

Allele description

NM_000487.5(ARSA):c.*96A>G

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.5(ARSA):c.*96A>G
Other names:
ARSA, MUTATION IN POLYADENYLATION SIGNAL
HGVS:
  • NC_000022.11:g.50625049T>C
  • NG_009260.2:g.8131A>G
  • NM_000487.5:c.*96A>G
  • NC_000022.10:g.51063477T>C
  • NM_000487.4:c.*96A>G
Links:
OMIM: 607574.0001; dbSNP: rs6151429
GMAF:
0.0499(C), 6151429
NCBI 1000 Genomes Browser:
rs6151429
Molecular consequence:
  • NM_000487.5:c.*96A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
Observations:
33

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000232557Emory Genetics Laboratory,Emory University
no classification provided

(EGL Classification Definitions)		not providedgermlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown33not providednot providednot providednot providedclinical testing

Details of each submission

From Emory Genetics Laboratory,Emory University, SCV000232557.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided33not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided33not providednot providednot provided

Last Updated: Nov 26, 2016