NM_005359.6(SMAD4):c.*2217G>A AND Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001125983.4
Allele description [Variation Report for NM_005359.6(SMAD4):c.*2217G>A]
NM_005359.6(SMAD4):c.*2217G>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
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MAG TPA: hypothetical protein [Caudoviricetes sp.]
MAG TPA: hypothetical protein [Caudoviricetes sp.]gi|2059921004|tpg|DAY45362.1|Protein
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Mus musculus 0 day neonate eyeball cDNA, RIKEN full-length enriched library, clo...
Mus musculus 0 day neonate eyeball cDNA, RIKEN full-length enriched library, clone:E130118L06 product:zinc finger protein 46, full insert sequencegi|26343614|dbj|AK053652.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023