NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val) AND Loeys-Dietz syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 19, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000238729.3
Allele description [Variation Report for NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)]
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)
Condition(s)
-
Adamts12 ADAM metallopeptidase with thrombospondin type 1 motif 12 [Mus musculus...
Adamts12 ADAM metallopeptidase with thrombospondin type 1 motif 12 [Mus musculus]Gene ID:239337Gene
-
239337[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024