NM_000169.3(GLA):c.80del (p.Pro27fs) AND Fabry disease
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001807107.3
Allele description [Variation Report for NM_000169.3(GLA):c.80del (p.Pro27fs)]
NM_000169.3(GLA):c.80del (p.Pro27fs)
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
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Metalasia erubescens voucher Karis 918 internal transcribed spacer 1, partial se...
Metalasia erubescens voucher Karis 918 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|338856775|gb|JF893854.1|Nucleotide
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Last Updated: Sep 16, 2024