Variant (rsID / SNP)

rs199422287

rs199422287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERC. Location: chromosome 3, position 169,482,399. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TERCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:169482399
Cytoband: 3q26.2
HGVS: NR_001566.1(TERC):n.450G>A
Allele change: Silent

Associated conditions / phenotypes

Aplastic anemia|Dyskeratosis congenita, autosomal dominant 1

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.