Variant (rsID / SNP)
rs34094720
rs34094720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERT. Location: chromosome 5, position 1,293,767. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TERTConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:1293767
- Cytoband
- 5p15.33
- HGVS
- NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
- Allele change
- Missense_H412Y
Associated conditions / phenotypes
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|Aplastic anemia|Autosomal recessive dyskeratosis congenita 4|Dyskeratosis congenita, autosomal dominant 2|Dyskeratosis congenita, autosomal dominant 2|Idiopathic Pulmonary Fibrosis|Acute myeloid leukemia|Dyskeratosis congenita
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.