NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser) AND Rubinstein-Taybi syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001884465.4
Allele description [Variation Report for NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser)]
NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser)
Condition(s)
-
LMAN2L lectin, mannose binding 2 like [Canis lupus familiaris]
LMAN2L lectin, mannose binding 2 like [Canis lupus familiaris]Gene ID:474569Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024