NM_000520.6(HEXA):c.357C>T (p.Thr119=) AND Tay-Sachs disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002208862.5
Allele description [Variation Report for NM_000520.6(HEXA):c.357C>T (p.Thr119=)]
NM_000520.6(HEXA):c.357C>T (p.Thr119=)
Condition(s)
- Name:
- Tay-Sachs disease (TSD)
- Synonyms:
- GM2 gangliosidosis, type 1; HexA deficiency; Hexosaminidase alpha-subunit deficiency (variant B); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010100; MedGen: C0039373; Orphanet: 845; OMIM: 272800
Assertion and evidence details
Last Updated: May 1, 2024