NM_000487.6(ARSA):c.433C>T (p.Arg145Ter) AND ARSA-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003898047.2
Allele description [Variation Report for NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)]
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)
Condition(s)
- Name:
- ARSA-related disorder
- Synonyms:
- ARSA-related condition
- Identifiers:
-
DA508867 FCBBF3 Homo sapiens cDNA clone FCBBF3025252 5', mRNA sequence
DA508867 FCBBF3 Homo sapiens cDNA clone FCBBF3025252 5', mRNA sequencegi|80872454|gnl|dbEST|33328515|dbj| 867.1|Nucleotide
-
Bovine mRNA for terminal deoxynucleotidyltransferase (TdT) (EC 2.7.7.31)
Bovine mRNA for terminal deoxynucleotidyltransferase (TdT) (EC 2.7.7.31)gi|767|emb|X04122.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024