NM_000104.4(CYP1B1):c.24C>T (p.Asn8=) AND Irido-corneo-trabecular dysgenesis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 2, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001140440.4
Allele description [Variation Report for NM_000104.4(CYP1B1):c.24C>T (p.Asn8=)]
NM_000104.4(CYP1B1):c.24C>T (p.Asn8=)
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
-
Heteroclinus flavescens isolate HFL01 NADH dehydrogenase subunit 2 (ND2) gene, p...
Heteroclinus flavescens isolate HFL01 NADH dehydrogenase subunit 2 (ND2) gene, partial cds; mitochondrialgi|530752074|gb|KF524896.1|Nucleotide
-
SUN domain-containing protein 2 isoform 2 [Homo sapiens]
SUN domain-containing protein 2 isoform 2 [Homo sapiens]gi|313760645|ref|NP_001186509.1|Protein
-
AGENCOURT_74294178 NICHD_XGC_limb_m Xenopus laevis cDNA clone IMAGE:8532110 5', ...
AGENCOURT_74294178 NICHD_XGC_limb_m Xenopus laevis cDNA clone IMAGE:8532110 5', mRNA sequencegi|92059470|gnl|dbEST|37989388|gb|E 46.1|Nucleotide
-
rrnS [Schrankia costaestrigalis]
rrnS [Schrankia costaestrigalis]Gene ID:79582025Gene
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Last Updated: May 1, 2024