NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Nov 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002502704.1
Allele description [Variation Report for NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu)]
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu)
Condition(s)
- Name:
- Glaucoma 3, primary infantile, B
- Synonyms:
- GLAUCOMA, PRIMARY CONGENITAL, TYPE B; GLC3B; GLC3 type B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010968; MedGen: C1832977; Orphanet: 98976; OMIM: 600975
- Name:
- Glaucoma 3, primary congenital, D
- Identifiers:
- MONDO: MONDO:0013122; MedGen: C2751316; Orphanet: 98976; OMIM: 613086
-
DNA topoisomerase I [Fistulifera solaris]
DNA topoisomerase I [Fistulifera solaris]gi|1210522534|dbj|GAX18547.1||gnl|W SP|GAX18547Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024