NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) AND Citrullinemia

Clinical significance:Benign (Last evaluated: Sep 16, 2020)

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:
RCV001276282.1

Allele description [Variation Report for NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)]

NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)

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.585G>T (p.Trp195Cys)
HGVS:
  • NC_000022.11:g.50626933C>A
  • NG_009260.2:g.6247G>T
  • NM_000487.6:c.585G>TMANE SELECT
  • NM_001085425.3:c.585G>T
  • NM_001085426.3:c.585G>T
  • NM_001085427.3:c.585G>T
  • NM_001085428.3:c.327G>T
  • NM_001362782.2:c.327G>T
  • NP_000478.3:p.Trp195Cys
  • NP_000478.3:p.Trp195Cys
  • NP_000478.3:p.Trp195Cys
  • NP_001078894.2:p.Trp195Cys
  • NP_001078895.2:p.Trp195Cys
  • NP_001078896.2:p.Trp195Cys
  • NP_001078897.1:p.Trp109Cys
  • NP_001349711.1:p.Trp109Cys
  • NC_000022.10:g.51065361C>A
  • NM_000487.5:c.585G>T
Protein change:
W109C
Links:
dbSNP: rs6151415
NCBI 1000 Genomes Browser:
rs6151415
Molecular consequence:
  • NM_000487.6:c.585G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.585G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.585G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.585G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.327G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.327G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Citrullinemia (CTNL1)
Identifiers:
MONDO: MONDO:0015991; MedGen: C0175683

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001462388Natera, Inc.no assertion criteria providedBenign
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001462388.1

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

Last Updated: Oct 24, 2021

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