NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) AND Tay-Sachs disease
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Oct 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000670986.8
Allele description [Variation Report for NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)]
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)
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
-
protein wingless, partial [Cicindela bicolor]
protein wingless, partial [Cicindela bicolor]gi|606213740|dbj|BAO58114.1|Protein
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Last Updated: Sep 29, 2024