NM_001368894.2(PAX6):c.1226-7C>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003808733.1
Allele description [Variation Report for NM_001368894.2(PAX6):c.1226-7C>T]
NM_001368894.2(PAX6):c.1226-7C>T
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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603064005F1 NIH_MGC_118 Homo sapiens cDNA clone IMAGE:5213257 5', mRNA sequence
603064005F1 NIH_MGC_118 Homo sapiens cDNA clone IMAGE:5213257 5', mRNA sequencegi|16175248|gnl|dbEST|9821238|gb|BI 6.1|Nucleotide
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HARS2 histidyl-tRNA synthetase 2, mitochondrial [Homo sapiens]
HARS2 histidyl-tRNA synthetase 2, mitochondrial [Homo sapiens]Gene ID:23438Gene
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Gene Links for OMIM (Select 600783) (1)
Gene
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SRA Links for BioSample (Select 14531465) (1)
SRA
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BioAssay, by Gene target for Gene (Select 286) (12)
PubChem BioAssay
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See more...Assertion and evidence details
Last Updated: May 1, 2024