NM_004612.4(TGFBR1):c.939T>C (p.Leu313=) AND Loeys-Dietz syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004007892.2
Allele description [Variation Report for NM_004612.4(TGFBR1):c.939T>C (p.Leu313=)]
NM_004612.4(TGFBR1):c.939T>C (p.Leu313=)
Condition(s)
-
DC119306 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus ...
DC119306 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus laevis cDNA clone xl286i04 5', mRNA sequencegi|119076249|gnl|dbEST|43346448|dbj 9306.1|Nucleotide
-
RecName: Full=Allene oxide synthase 3; Short=LeAOS3; AltName: Full=Allene oxide ...
RecName: Full=Allene oxide synthase 3; Short=LeAOS3; AltName: Full=Allene oxide cyclase; AltName: Full=Cytochrome P450 CYP74C3; AltName: Full=Cytochrome P450 CYP74D1gi|75329024|sp|Q8GZP5.1|AOS3_SOLLCProtein
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See more...Assertion and evidence details
Last Updated: May 7, 2024