NM_000520.6(HEXA):c.1196A>G (p.Asn399Ser) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004073239.1
Allele description [Variation Report for NM_000520.6(HEXA):c.1196A>G (p.Asn399Ser)]
NM_000520.6(HEXA):c.1196A>G (p.Asn399Ser)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
RecName: Full=Synaptotagmin-9; AltName: Full=Synaptotagmin 5; AltName: Full=Syna...
RecName: Full=Synaptotagmin-9; AltName: Full=Synaptotagmin 5; AltName: Full=Synaptotagmin IX; Short=SytIX; AltName: Full=Synaptotagmin Vgi|33112456|sp|Q925C0.1|SYT9_RATProtein
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Last Updated: Sep 29, 2024