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Variant (rsID / SNP)

rs199422291

TERT

rs199422291 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERT. Location: chromosome 5, position 1,294,571. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TERTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:1294571
Cytoband
5p15.33
HGVS
NM_198253.3(TERT):c.430G>A (p.Val144Met)
Allele change
Missense_V144M

Associated conditions / phenotypes

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.