NM_004380.3(CREBBP):c.5873C>T (p.Ala1958Val) AND Rubinstein-Taybi syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001944894.4
Allele description [Variation Report for NM_004380.3(CREBBP):c.5873C>T (p.Ala1958Val)]
NM_004380.3(CREBBP):c.5873C>T (p.Ala1958Val)
Condition(s)
-
Mus musculus RIKEN cDNA B430315C20 gene (B430315C20Rik), mRNA
Mus musculus RIKEN cDNA B430315C20 gene (B430315C20Rik), mRNAgi|31342033|ref|NM_178795.2|Nucleotide
-
transmembrane protein 65 [Homo sapiens]
transmembrane protein 65 [Homo sapiens]gi|145580604|ref|NP_919267.2|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024