NM_000310.4(PPT1):c.233A>C (p.Glu78Ala) AND Neuronal ceroid lipofuscinosis 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002594973.1
Allele description [Variation Report for NM_000310.4(PPT1):c.233A>C (p.Glu78Ala)]
NM_000310.4(PPT1):c.233A>C (p.Glu78Ala)
Condition(s)
- Name:
- Neuronal ceroid lipofuscinosis 1 (CLN1)
- Synonyms:
- CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET; CLN1 variable age at onset; Infantile CLN (type of CLN1); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009744; MedGen: C1850451; OMIM: 256730
Assertion and evidence details
Last Updated: Feb 13, 2023