NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) AND Adams-Oliver syndrome 5
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Oct 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000799752.7
Allele description [Variation Report for NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)]
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)
Condition(s)
-
Chain B, INOSITOL MONOPHOSPHATASE
Chain B, INOSITOL MONOPHOSPHATASEgi|13787080|pdb|1G0H|BProtein
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Last Updated: Sep 16, 2024