NM_004380.3(CREBBP):c.2284-5C>T AND Rubinstein-Taybi syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002751551.3
Allele description [Variation Report for NM_004380.3(CREBBP):c.2284-5C>T]
NM_004380.3(CREBBP):c.2284-5C>T
Condition(s)
-
androgen-induced gene 1 protein isoform b [Homo sapiens]
androgen-induced gene 1 protein isoform b [Homo sapiens]gi|557440814|ref|NP_001273516.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024