NM_000520.6(HEXA):c.1518A>G (p.Glu506=) AND Tay-Sachs disease
- Germline classification:
- Benign (5 submissions)
- Last evaluated:
- Nov 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000291094.24
Allele description [Variation Report for NM_000520.6(HEXA):c.1518A>G (p.Glu506=)]
NM_000520.6(HEXA):c.1518A>G (p.Glu506=)
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: Oct 13, 2024