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Variant (rsID / SNP)

rs121918666

TERT

rs121918666 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERT. Location: chromosome 5, position 1,266,639. Clinical significance in the table: Pathogenic.

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Reference-table entries

TERTPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
5:1266639
Cytoband
5p15.33
HGVS
NM_198253.3(TERT):c.2594G>A (p.Arg865His)
Allele change
Missense_R865H

Associated conditions / phenotypes

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|Idiopathic Pulmonary Fibrosis|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2

Public references

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