NM_001114753.3(ENG):c.1742-16C>T AND Hereditary hemorrhagic telangiectasia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Oct 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003070381.2
Allele description
NM_001114753.3(ENG):c.1742-16C>T
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
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Homo sapiens peroxisomal biogenesis factor 5 like (PEX5L), transcript variant 14...
Homo sapiens peroxisomal biogenesis factor 5 like (PEX5L), transcript variant 14, mRNAgi|1675146630|ref|NM_001349391.2|Nucleotide
-
Homo sapiens diacylglycerol kinase, beta 90kDa, mRNA (cDNA clone MGC:132665 IMAG...
Homo sapiens diacylglycerol kinase, beta 90kDa, mRNA (cDNA clone MGC:132665 IMAGE:8144008), complete cdsgi|85397107|gb|BC105005.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024