Variant (rsID / SNP)

rs201879837

rs201879837 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTC1. Location: chromosome 17, position 8,135,299. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CTC1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:8135299
Cytoband: 17p13.1
HGVS: NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys)
Allele change: Missense_W769C

Associated conditions / phenotypes

Dyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 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.