NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8]) AND Beckwith-Wiedemann syndrome
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000230610.14
Allele description [Variation Report for NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8])]
NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8])
Condition(s)
-
signal recognition particle subunit SRP72 isoform 2 [Homo sapiens]
signal recognition particle subunit SRP72 isoform 2 [Homo sapiens]gi|391353390|ref|NP_001254651.1|Protein
-
SRP125010 (9)
SRA
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024