NM_005359.6(SMAD4):c.*5710T>A 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:
- RCV001128639.4
Allele description [Variation Report for NM_005359.6(SMAD4):c.*5710T>A]
NM_005359.6(SMAD4):c.*5710T>A
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
-
Annotated Genomic for Nucleotide (Select 1677538324) (2)
Nucleotide
-
S-adenosylmethionine decarboxylase [Capsicum annuum]
S-adenosylmethionine decarboxylase [Capsicum annuum]gi|410443182|gb|AFV67665.1|Protein
-
Rattus norvegicus isolate HebeiRn8 cytochrome b (cytb) gene, partial cds; mitoch...
Rattus norvegicus isolate HebeiRn8 cytochrome b (cytb) gene, partial cds; mitochondrialgi|295314011|gb|GU592963.1|Nucleotide
-
histidinol dehydrogenase [Glaesserella parasuis SW140]
histidinol dehydrogenase [Glaesserella parasuis SW140]gi|529272549|gb|EQA15064.1||gnl|WGS |HPSSW140_1502Protein
-
DNA-binding protein [Homo sapiens]
DNA-binding protein [Homo sapiens]gi|189174|gb|AAA59926.1|Protein
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Last Updated: Apr 9, 2023