Variant (rsID / SNP)
rs863225053
rs863225053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RTEL1. Location: chromosome 20, position 62,321,517. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
RTEL1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 20:62321517
- Cytoband
- 20q13.33
- HGVS
- NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del)
Associated conditions / phenotypes
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Idiopathic Pulmonary Fibrosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.