NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) AND Late-infantile neuronal ceroid lipofuscinosis
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 18, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001826792.9
Allele description [Variation Report for NM_001371596.2(MFSD8):c.1041A>G (p.Val347=)]
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=)
Condition(s)
- Name:
- Late-infantile neuronal ceroid lipofuscinosis
- Synonyms:
- Jansky-Bielschowsky disease
- Identifiers:
- MONDO: MONDO:0015674; MedGen: C0022340
Assertion and evidence details
Last Updated: Nov 3, 2024