NM_006493.4(CLN5):c.371G>A (p.Ser124Asn) AND Neuronal ceroid lipofuscinosis 5
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001272144.3
Allele description [Variation Report for NM_006493.4(CLN5):c.371G>A (p.Ser124Asn)]
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn)
Condition(s)
- Name:
- Neuronal ceroid lipofuscinosis 5 (CLN5)
- Synonyms:
- CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET; Neuronal ceroid lipofuscinosis Finnish variant; NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009745; MedGen: C1850442; Orphanet: 168491; Orphanet: 228360; OMIM: 256731
-
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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See more...Assertion and evidence details
Last Updated: Sep 29, 2024