NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 23, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001799406.2
Allele description [Variation Report for NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn)]
NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn)
Condition(s)
-
signal-induced proliferation-associated 1-like protein 1 isoform X1 [Homo sapien...
signal-induced proliferation-associated 1-like protein 1 isoform X1 [Homo sapiens]gi|2217297033|ref|XP_047287172.1|Protein
-
PREDICTED: Homo sapiens signal induced proliferation associated 1 like 1 (SIPA1L...
PREDICTED: Homo sapiens signal induced proliferation associated 1 like 1 (SIPA1L1), transcript variant X22, mRNAgi|2462539728|ref|XM_054375810.1|Nucleotide
-
signal-induced proliferation-associated 1-like protein 1 isoform 2 [Homo sapiens...
signal-induced proliferation-associated 1-like protein 1 isoform 2 [Homo sapiens]gi|545746348|ref|NP_001271174.1|Protein
-
leafy, partial [Piliostigma malabaricum]
leafy, partial [Piliostigma malabaricum]gi|1000354009|gb|AML27685.1|Protein
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Last Updated: Dec 24, 2023