NM_005902.4(SMAD3):c.769G>A (p.Val257Met) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001345386.8
Allele description [Variation Report for NM_005902.4(SMAD3):c.769G>A (p.Val257Met)]
NM_005902.4(SMAD3):c.769G>A (p.Val257Met)
Condition(s)
-
P-loop NTPase fold protein [Burkholderia stagnalis]
P-loop NTPase fold protein [Burkholderia stagnalis]gi|1939408858|ref|WP_196484954.1|Protein
-
hypothetical protein [Burkholderia stagnalis]
hypothetical protein [Burkholderia stagnalis]gi|1840530449|ref|WP_170304049.1|Protein
-
C-terminal-binding protein 2 isoform X3 [Falco cherrug]
C-terminal-binding protein 2 isoform X3 [Falco cherrug]gi|2499774382|ref|XP_055575103.1|Protein
-
BJ091112 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clon...
BJ091112 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clone XL094c19 3', mRNA sequencegi|17589621|gnl|dbEST|10559435|dbj| 112.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024