NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 10, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000723526.1

Allele description [Variation Report for NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer)]

NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer)

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer)
HGVS:
  • NC_000022.11:g.50627585del
  • NG_009260.2:g.5595del
  • NM_000487.6:c.195delMANE SELECT
  • NM_001085425.3:c.195del
  • NM_001085426.3:c.195del
  • NM_001085427.3:c.195del
  • NM_001085428.3:c.-34-179del
  • NM_001362782.2:c.-34-179del
  • NP_000478.3:p.Phe64_Tyr65insTer
  • NP_001078894.2:p.Phe64_Tyr65insTer
  • NP_001078895.2:p.Phe64_Tyr65insTer
  • NP_001078896.2:p.Phe64_Tyr65insTer
  • NC_000022.10:g.51066013del
  • NM_000487.5:c.195del
  • NM_000487.5:c.195delC
Links:
dbSNP: rs398123414
NCBI 1000 Genomes Browser:
rs398123414
Molecular consequence:
  • NM_001085428.3:c.-34-179del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362782.2:c.-34-179del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000487.6:c.195del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001085425.3:c.195del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001085426.3:c.195del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001085427.3:c.195del - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110803EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Jul 10, 2012)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000110803.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 8, 2021

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