NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn) 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:
RCV000058942.1

Allele description [Variation Report for NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn)]

NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn)

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.1107G>C (p.Lys369Asn)
HGVS:
  • NC_000022.11:g.50625936C>G
  • NG_009260.2:g.7244G>C
  • NM_000487.6:c.1107G>CMANE SELECT
  • NM_001085425.3:c.1107G>C
  • NM_001085426.3:c.1107G>C
  • NM_001085427.3:c.1107G>C
  • NM_001085428.3:c.849G>C
  • NM_001362782.2:c.849G>C
  • NP_000478.3:p.Lys369Asn
  • NP_001078894.2:p.Lys369Asn
  • NP_001078895.2:p.Lys369Asn
  • NP_001078896.2:p.Lys369Asn
  • NP_001078897.1:p.Lys283Asn
  • NP_001349711.1:p.Lys283Asn
  • NC_000022.10:g.51064364C>G
  • NM_000487.5:c.1107G>C
Protein change:
K283N
Links:
UniProtKB/Swiss-Prot: VAR_007279; dbSNP: rs199476369
NCBI 1000 Genomes Browser:
rs199476369
Molecular consequence:
  • NM_000487.6:c.1107G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.1107G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.1107G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.1107G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.849G>C - 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
SCV000090463UniProtKB/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

Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.

Draghia R, Letourneur F, Drugan C, Manicom J, Blanchot C, Kahn A, Poenaru L, Caillaud C.

Hum Mutat. 1997;9(3):234-42.

PubMed [citation]
PMID:
9090526

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090463.1

#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: Nov 27, 2021

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