NM_003238.6(TGFB2):c.1232G>C (p.Cys411Ser) AND Loeys-Dietz syndrome 4
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000656710.1
Allele description [Variation Report for NM_003238.6(TGFB2):c.1232G>C (p.Cys411Ser)]
NM_003238.6(TGFB2):c.1232G>C (p.Cys411Ser)
Condition(s)
-
Aj_body_1
Aj_body_1biosample
-
Homo sapiens protein phosphatase 2 regulatory subunit Bbeta (PPP2R2B), transcrip...
Homo sapiens protein phosphatase 2 regulatory subunit Bbeta (PPP2R2B), transcript variant 6, mRNAgi|188497694|ref|NM_181678.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022