Variant (rsID / SNP)

rs141425941

rs141425941 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERT. Location: chromosome 5, position 1,272,311. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TERTUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:1272311
Cytoband: 5p15.33
HGVS: NM_198253.3(TERT):c.2371G>A (p.Val791Ile)
Allele change: Missense_V791I

Associated conditions / phenotypes

Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.