Variant (rsID / SNP)

rs141686314

rs141686314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERC. Location: chromosome 3, position 169,482,621. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TERCBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:169482621
Cytoband: 3q26.2
HGVS: NR_001566.1(TERC):n.228G>A
Allele change: Silent

Associated conditions / phenotypes

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.