NM_000104.4(CYP1B1):c.1202A>G (p.His401Arg) AND Irido-corneo-trabecular dysgenesis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000292895.5
Allele description [Variation Report for NM_000104.4(CYP1B1):c.1202A>G (p.His401Arg)]
NM_000104.4(CYP1B1):c.1202A>G (p.His401Arg)
Condition(s)
- Name:
- Irido-corneo-trabecular dysgenesis (ASGD5)
- Synonyms:
- ANTERIOR SEGMENT DYSGENESIS 5
- Identifiers:
- MONDO: MONDO:0011414; MedGen: C0344559; Orphanet: 708; OMIM: 604229; Human Phenotype Ontology: HP:0000659
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MULTISPECIES: YbbR-like domain-containing protein [Bacillus]
MULTISPECIES: YbbR-like domain-containing protein [Bacillus]gi|446281714|ref|WP_000359569.1|Protein
-
acyl-CoA oxidase 1 [Drosophila melanogaster]
acyl-CoA oxidase 1 [Drosophila melanogaster]gi|24654595|ref|NP_611264.2|Protein
-
Clupeichthys perakensis voucher FLMNH 2014-0249 recombination activating protein...
Clupeichthys perakensis voucher FLMNH 2014-0249 recombination activating protein 2 gene, partial cdsgi|1373464072|gb|MG958304.1|Nucleotide
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Crenicichla empheres isolate C535 NADH dehydrogenase subunit 2 (ND2) gene, parti...
Crenicichla empheres isolate C535 NADH dehydrogenase subunit 2 (ND2) gene, partial cds; mitochondrialgi|2117208319|gb|MW563530.1|Nucleotide
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Chain B, ELK-1/DNA STRUCTURE REVEALS HOW RESIDUES DISTAL FROM DNA-BINDING SURFAC...
Chain B, ELK-1/DNA STRUCTURE REVEALS HOW RESIDUES DISTAL FROM DNA-BINDING SURFACE AFFECT DNA-RECOGNITIONgi|7767062|pdb|1DUX|BNucleotide
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Last Updated: May 1, 2024