NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn) AND Leber congenital amaurosis 8
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001250632.1
Allele description [Variation Report for NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn)]
NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn)
Condition(s)
-
Acetophenones
AcetophenonesDerivatives of the simplest aromatic ketone acetophenone (of general formula C6H5C(O)CH3).<br/>MeSH
-
D000098 (1)
MeSH
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Last Updated: Apr 23, 2022