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Variant (rsID / SNP)

rs375473823

TERT

rs375473823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERT. Location: chromosome 5, position 1,266,569. 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
5:1266569
Cytoband
5p15.33
HGVS
NM_198253.3(TERT):c.2654+10G>A
Allele change
Silent

Associated conditions / phenotypes

Dyskeratosis congenita, autosomal dominant 2|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|Aplastic anemia|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.