NC_000023.11:g.101398566_101398569del AND Fabry disease
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- May 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001192398.9
Allele description [Variation Report for NC_000023.11:g.101398566_101398569del]
NC_000023.11:g.101398566_101398569del
Condition(s)
- Name:
- Fabry disease
- Synonyms:
- Angiokeratoma, diffuse; Anderson-Fabry disease; Hereditary dystopic lipidosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010526; MedGen: C0002986; Orphanet: 324; OMIM: 301500; Human Phenotype Ontology: HP:0001071
-
pentatricopeptide repeat-containing protein [Prunus yedoensis var. nudiflora]
pentatricopeptide repeat-containing protein [Prunus yedoensis var. nudiflora]gi|1353893449|gb|PQQ07503.1||gnl|WG Y|Pyn_23534Protein
-
hypothetical protein PRUPE_3G136900 [Prunus persica]
hypothetical protein PRUPE_3G136900 [Prunus persica]gi|1139783254|gb|ONI17081.1||gnl|WG U|PRUPE_3G1369002pProtein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024