V28L (p.Val28Leu) variant of TERT (Telomerase reverse transcriptase)
V28L (p.Val28Leu) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant. The record also includes population frequency data, published literature, and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- rs1060503000
- ClinGen CA16611735
- ClinVar RCV001753900
- ClinVar RCV002526429
- Uncertain significance
- not provided; Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant
- Missense
- ClinVar: Uncertain significance (not provided; Dyskeratosis congenita; Dyskeratosis congenita, au)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)