Variant (rsID / SNP)
rs61748181
rs61748181 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERT. Location: chromosome 5, position 1,294,166. Clinical significance in the table: Benign.
Reference-table entries
TERTBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:1294166
- Cytoband
- 5p15.33
- HGVS
- NM_198253.3(TERT):c.835G>A (p.Ala279Thr)
- Allele change
- Missense_A279T
Associated conditions / phenotypes
Aplastic anemia|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|Dyskeratosis congenita, autosomal dominant 2|Dyskeratosis congenita, autosomal dominant 2|Idiopathic Pulmonary Fibrosis|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.