NM_005359.6(SMAD4):c.*2561G>C AND Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001122329.4
Allele description [Variation Report for NM_005359.6(SMAD4):c.*2561G>C]
NM_005359.6(SMAD4):c.*2561G>C
Condition(s)
- Name:
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT)
- Synonyms:
- JP/HHT SYNDROME; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA; POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008278; MedGen: C1832942; Orphanet: 2929; OMIM: 175050
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elongation factor Tu GTP binding domain containing 2, isoform CRA_a [Homo sapien...
elongation factor Tu GTP binding domain containing 2, isoform CRA_a [Homo sapiens]gi|119571958|gb|EAW51573.1||gnl|WGS |hCP1917706Protein
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Taxonomy Links for Protein (Select 189760) (1)
Taxonomy
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290 Metagenome-assembled Genomes from the Mediterranean Sea
290 Metagenome-assembled Genomes from the Mediterranean Seabiosample
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BioSample links for Nucleotide (Select 1200277315) (1)
BioSample
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NQO2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 [Homo sapiens]
NQO2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 [Homo sapiens]Gene ID:4835Gene
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Last Updated: Apr 9, 2023