NM_004380.3(CREBBP):c.6301A>G (p.Ile2101Val) AND Rubinstein-Taybi syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003758343.2
Allele description [Variation Report for NM_004380.3(CREBBP):c.6301A>G (p.Ile2101Val)]
NM_004380.3(CREBBP):c.6301A>G (p.Ile2101Val)
Condition(s)
-
Mus musculus dynein cytoplasmic 2 light intermediate chain 1 (Dync2li1), mRNA
Mus musculus dynein cytoplasmic 2 light intermediate chain 1 (Dync2li1), mRNAgi|1451683413|ref|NM_172256.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024