Variant (rsID / SNP)
rs373400596
rs373400596 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERT. Location: chromosome 5, position 1,255,409. 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
- 5:1255409
- Cytoband
- 5p15.33
- HGVS
- NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)
- Allele change
- Missense_K1050N
Associated conditions / phenotypes
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|Dyskeratosis congenita, autosomal dominant 2|Aplastic anemia|Dyskeratosis congenita, autosomal dominant 2|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.