NM_000311.5(PRNP):c.372C>G (p.Gly124=) AND Huntington disease-like 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000873874.19
Allele description [Variation Report for NM_000311.5(PRNP):c.372C>G (p.Gly124=)]
NM_000311.5(PRNP):c.372C>G (p.Gly124=)
Condition(s)
- Name:
- Huntington disease-like 1 (HDL1)
- Synonyms:
- HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1; HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT; PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES
- Identifiers:
- MONDO: MONDO:0011299; MedGen: C1864112; Orphanet: 157941; OMIM: 603218
-
unnamed protein product, partial [Homo sapiens]
unnamed protein product, partial [Homo sapiens]gi|32364|emb|CAA27420.1|Protein
-
Determining the Necessity of Laboratory Dogs in Biomedical Research Funded by or...
Determining the Necessity of Laboratory Dogs in Biomedical Research Funded by or Conducted at the U.S. Department of Veterans Affairs - Necessity, Use, and Care of Laboratory Dogs at the U.S. Department of Veterans Affairs
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Last Updated: Sep 29, 2024