NM_000520.6(HEXA):c.517C>T (p.Leu173=) AND Tay-Sachs disease
- Germline classification:
- Likely benign (3 submissions)
- Last evaluated:
- Dec 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001275903.14
Allele description [Variation Report for NM_000520.6(HEXA):c.517C>T (p.Leu173=)]
NM_000520.6(HEXA):c.517C>T (p.Leu173=)
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: Jun 2, 2024