Variant (rsID / SNP)
rs2736100
rs2736100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERT. Location: chromosome 5, position 1,286,516. Clinical significance in the table: Benign.
Reference-table entries
TERTBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:1286516
- Cytoband
- 5p15.33
- HGVS
- NM_198253.3(TERT):c.1574-3777G>T
- Allele change
- Silent
Associated conditions / phenotypes
Chronic osteomyelitis|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2|Idiopathic Pulmonary Fibrosis|Chronic obstructive pulmonary disease|Combined pulmonary fibrosis-emphysema syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.