NM_000487.6(ARSA):c.922T>C (p.Tyr308His) 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:
RCV000058993.1

Allele description [Variation Report for NM_000487.6(ARSA):c.922T>C (p.Tyr308His)]

NM_000487.6(ARSA):c.922T>C (p.Tyr308His)

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.922T>C (p.Tyr308His)
HGVS:
  • NC_000022.11:g.50626211A>G
  • NG_009260.2:g.6969T>C
  • NM_000487.6:c.922T>CMANE SELECT
  • NM_001085425.3:c.922T>C
  • NM_001085426.3:c.922T>C
  • NM_001085427.3:c.922T>C
  • NM_001085428.3:c.664T>C
  • NM_001362782.2:c.664T>C
  • NP_000478.3:p.Tyr308His
  • NP_001078894.2:p.Tyr308His
  • NP_001078895.2:p.Tyr308His
  • NP_001078896.2:p.Tyr308His
  • NP_001078897.1:p.Tyr222His
  • NP_001349711.1:p.Tyr222His
  • NC_000022.10:g.51064639A>G
  • NM_000487.5:c.922T>C
Protein change:
Y222H
Links:
UniProtKB/Swiss-Prot: VAR_054198; dbSNP: rs199476379
NCBI 1000 Genomes Browser:
rs199476379
Molecular consequence:
  • NM_000487.6:c.922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.664T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.664T>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
SCV000090514UniProtKB/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

Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).

Eng B, Nakamura LN, O'Reilly N, Schokman N, Nowaczyk MM, Krivit W, Waye JS.

Hum Mutat. 2003 Nov;22(5):418-9.

PubMed [citation]
PMID:
14517960

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090514.1

#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: Oct 8, 2021

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