NM_001114753.3(ENG):c.809A>G (p.Gln270Arg) AND Hereditary hemorrhagic telangiectasia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003087897.2
Allele description [Variation Report for NM_001114753.3(ENG):c.809A>G (p.Gln270Arg)]
NM_001114753.3(ENG):c.809A>G (p.Gln270Arg)
Condition(s)
- Name:
- Hereditary hemorrhagic telangiectasia (HHT)
- Synonyms:
- Osler Weber Rendu syndrome; ORW disease; Osler-Rendu-Weber disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019180; MedGen: C0039445; OMIM: PS187300
-
Saurida tumbil voucher AST-2 cytochrome c oxidase subunit I (COX1) gene, partial...
Saurida tumbil voucher AST-2 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrialgi|2710235233|gb|PP587219.1|Nucleotide
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Peperomia tetraphylla (1)
Taxonomy
-
Ceropegia afrorum (0)
Taxonomy
-
Structure Links for Protein (Select 158428405) (3)
Structure
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Last Updated: Feb 20, 2024