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Variant (rsID / SNP)

rs149566858

TERT

rs149566858 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERT. Location: chromosome 5, position 1,278,865. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TERTUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
5:1278865
Cytoband
5p15.33
HGVS
NM_198253.3(TERT):c.2177C>T (p.Thr726Met)
Allele change
Missense_T726M

Associated conditions / phenotypes

Dyskeratosis congenita, autosomal dominant 1|Dyskeratosis congenita, autosomal dominant 2|Idiopathic Pulmonary Fibrosis|Idiopathic Pulmonary Fibrosis

Public references

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