NM_000520.6(HEXA):c.1435G>C (p.Ala479Pro) AND Tay-Sachs disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002972379.1
Allele description [Variation Report for NM_000520.6(HEXA):c.1435G>C (p.Ala479Pro)]
NM_000520.6(HEXA):c.1435G>C (p.Ala479Pro)
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
-
SFTPA1 surfactant protein A1 [Homo sapiens]
SFTPA1 surfactant protein A1 [Homo sapiens]Gene ID:653509Gene
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See more...Assertion and evidence details
Last Updated: Feb 13, 2023