NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val) AND Rubinstein-Taybi syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002933950.3
Allele description [Variation Report for NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)]
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
Condition(s)
-
SH2D5 SH2 domain containing 5 [Macaca mulatta]
SH2D5 SH2 domain containing 5 [Macaca mulatta]Gene ID:717509Gene
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024