NM_002890.3(RASA1):c.1210A>G (p.Thr404Ala) AND Capillary malformation-arteriovenous malformation syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003593546.1
-
RecName: Full=Arylsulfatase I; Short=ASI; Flags: Precursor
RecName: Full=Arylsulfatase I; Short=ASI; Flags: Precursorgi|74722581|sp|Q5FYB1.1|ARSI_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024