NM_000434.4(NEU1):c.432C>T (p.Ser144=) AND Sialidosis type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001153766.4
Allele description [Variation Report for NM_000434.4(NEU1):c.432C>T (p.Ser144=)]
NM_000434.4(NEU1):c.432C>T (p.Ser144=)
Condition(s)
- Name:
- Sialidosis type 2
- Synonyms:
- ML I; NEU DEFICIENCY; Sialidosis, type II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009738; MedGen: C4282398; Orphanet: 812; Orphanet: 87876; OMIM: 256550
Assertion and evidence details
Last Updated: Oct 20, 2024