Variant (rsID / SNP)
rs2736098
rs2736098 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERT. Location: chromosome 5, position 1,294,086. Clinical significance in the table: Benign.
Reference-table entries
TERTBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:1294086
- Cytoband
- 5p15.33
- HGVS
- NM_198253.3(TERT):c.915G>A (p.Ala305=)
- Allele change
- Synonymous_A305A
Associated conditions / phenotypes
Dyskeratosis congenita, autosomal dominant 1|Aplastic anemia|Dyskeratosis congenita, autosomal dominant 2|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.