Variant (rsID / SNP)

rs199422306

rs199422306 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERT. Location: chromosome 5, position 1,253,913. 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: 5:1253913
Cytoband: 5p15.33
HGVS: NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)
Allele change: Missense_T1110M

Associated conditions / phenotypes

Idiopathic Pulmonary Fibrosis|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.