NM_001368894.2(PAX6):c.1001_1002del (p.Thr334fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003037377.2
Allele description [Variation Report for NM_001368894.2(PAX6):c.1001_1002del (p.Thr334fs)]
NM_001368894.2(PAX6):c.1001_1002del (p.Thr334fs)
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
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Gene Links for GEO Profiles (Select 119761174) (2)
Gene
-
Taxonomy Links for PopSet (Select 156708141) (1)
Taxonomy
-
Same Parent, Connectivity for PubChem Compound (Select 17170) (27)
PubChem Compound
-
532728_2
532728_2GEO DataSets
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GEO DataSets Links for BioSample (Select 7411085) (1)
GEO DataSets
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Last Updated: May 1, 2024