NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) AND Ectopia lentis 1, isolated, autosomal dominant
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001121324.11
Allele description [Variation Report for NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)]
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
Condition(s)
-
Mus musculus dedicator of cytokinesis 11 (Dock11), mRNA
Mus musculus dedicator of cytokinesis 11 (Dock11), mRNAgi|125660463|ref|NM_001009947.3|Nucleotide
-
PREDICTED: acylphosphatase-1 isoform X2 [Rhinopithecus bieti]
PREDICTED: acylphosphatase-1 isoform X2 [Rhinopithecus bieti]gi|1059159206|ref|XP_017736015.1|Protein
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Last Updated: Sep 29, 2024