NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg) AND Adams-Oliver syndrome 5
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000229962.9
Allele description [Variation Report for NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg)]
NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg)
Condition(s)
-
Homo sapiens synaptotagmin XII (SYT12), mRNA
Homo sapiens synaptotagmin XII (SYT12), mRNAgi|29366827|ref|NM_177963.1|Nucleotide
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Last Updated: Sep 29, 2024