NM_000310.4(PPT1):c.177G>A (p.Glu59=) AND Neuronal ceroid lipofuscinosis 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002536141.2
Allele description [Variation Report for NM_000310.4(PPT1):c.177G>A (p.Glu59=)]
NM_000310.4(PPT1):c.177G>A (p.Glu59=)
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
-
Pseudomonas koreensis strain:Y5
Pseudomonas koreensis strain:Y5Pseudomonas koreensis strain:Y5 Genome sequencingBioProject
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 5, 2024