NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001086844.7
Allele description [Variation Report for NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)]
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
Condition(s)
- Name:
- Aniridia 1 (AN1)
- Identifiers:
- MONDO: MONDO:0024507; MedGen: C0344542; Orphanet: 250923; OMIM: 106210
- 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
-
AGENCOURT_13643707 NIH_MGC_186 Homo sapiens cDNA clone IMAGE:30323947 5', mRNA s...
AGENCOURT_13643707 NIH_MGC_186 Homo sapiens cDNA clone IMAGE:30323947 5', mRNA sequencegi|30294709|gnl|dbEST|17784246|gb|C 90.1|Nucleotide
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Last Updated: Jun 17, 2024