NM_012186.3(FOXE3):c.423G>A (p.Lys141=) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000878330.11
Allele description [Variation Report for NM_012186.3(FOXE3):c.423G>A (p.Lys141=)]
NM_012186.3(FOXE3):c.423G>A (p.Lys141=)
Condition(s)
- Name:
- Congenital primary aphakia
- Synonyms:
- ANTERIOR SEGMENT DYSGENESIS 2; Anterior segment dysgenesis 2, multiple subtypes
- Identifiers:
- MONDO: MONDO:0012456; MedGen: C1853230; Orphanet: 83461; OMIM: 610256
- Name:
- Anterior segment dysgenesis
- Synonyms:
- Ocular anterior segment dysgenesis
- Identifiers:
- MONDO: MONDO:0019503; MedGen: C1862839; OMIM: PS107250; Human Phenotype Ontology: HP:0007700
-
PREDICTED: Homo sapiens protein phosphatase 6 regulatory subunit 2 (PPP6R2), tra...
PREDICTED: Homo sapiens protein phosphatase 6 regulatory subunit 2 (PPP6R2), transcript variant X7, mRNAgi|2217340632|ref|XM_011530724.3|Nucleotide
-
RecName: Full=Coiled-coil domain-containing protein 167
RecName: Full=Coiled-coil domain-containing protein 167gi|160017504|sp|Q9P0B6.2|CC167_HUMAProtein
-
nucleoside triphosphate pyrophosphohydrolase [Desulfitobacterium hafniense]
nucleoside triphosphate pyrophosphohydrolase [Desulfitobacterium hafniense]gi|499778205|ref|WP_011458939.1|Protein
-
Focal segmental glomerulosclerosis 3
Focal segmental glomerulosclerosis 3MedGen
-
C4016880[conceptid] (1)
MedGen
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Last Updated: Sep 16, 2024