NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002479086.1
Allele description [Variation Report for NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=)]
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=)
Condition(s)
- Name:
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Synonyms:
- Rubinstein syndrome; Broad thumbs and great toes, characteristic facies, and mental retardation; RUBINSTEIN-TAYBI SYNDROME 1, INCOMPLETE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008393; MedGen: C4551859; Orphanet: 783; OMIM: 180849
-
replication protein A 32 kDa subunit isoform X1 [Homo sapiens]
replication protein A 32 kDa subunit isoform X1 [Homo sapiens]gi|1370454139|ref|XP_024304630.1|Protein
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Last Updated: Oct 13, 2024