NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=) AND Beckwith-Wiedemann syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000529614.10
Allele description [Variation Report for NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=)]
NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=)
Condition(s)
-
PREDICTED: Homo sapiens StAR related lipid transfer domain containing 3 (STARD3)...
PREDICTED: Homo sapiens StAR related lipid transfer domain containing 3 (STARD3), transcript variant X9, mRNAgi|2217309476|ref|XM_047435167.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024