NM_001429.4(EP300):c.95-16T>C AND Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002518612.9
Allele description [Variation Report for NM_001429.4(EP300):c.95-16T>C]
NM_001429.4(EP300):c.95-16T>C
Condition(s)
-
PREDICTED: Homo sapiens transcription factor 3 (TCF3), transcript variant X14, m...
PREDICTED: Homo sapiens transcription factor 3 (TCF3), transcript variant X14, mRNAgi|2217322615|ref|XM_047439269.1|Nucleotide
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Last Updated: May 19, 2024