Variant (rsID / SNP)

rs183556317

rs183556317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTC1. Location: chromosome 17, position 8,137,796. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CTC1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:8137796
Cytoband: 17p13.1
HGVS: NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser)
Allele change: Missense_P599S

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.