NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) AND Sandhoff disease, adult form
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 8, 1993
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000004083.2
Allele description [Variation Report for NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)]
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
Condition(s)
- Name:
- Sandhoff disease, adult form
- Synonyms:
- Sandhoff disease, adult type
- Identifiers:
- MONDO: MONDO:0017723; MedGen: C0751489
-
amyloid beta precursor protein, partial [Hipposideros cf. ruber]
amyloid beta precursor protein, partial [Hipposideros cf. ruber]gi|763551432|gb|AJQ24152.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024