NM_000520.6(HEXA):c.1322C>G (p.Ala441Gly) AND Tay-Sachs disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001892188.3
Allele description [Variation Report for NM_000520.6(HEXA):c.1322C>G (p.Ala441Gly)]
NM_000520.6(HEXA):c.1322C>G (p.Ala441Gly)
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
-
CTBP1 [Corvus cornix cornix]
CTBP1 [Corvus cornix cornix]Gene ID:104690797Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024