Variant (rsID / SNP)

rs199473676

rs199473676 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTC1. Location: chromosome 17, position 8,135,745. Clinical significance in the table: Pathogenic.

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Reference-table entries

CTC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:8135745
Cytoband: 17p13.1
HGVS: NM_025099.6(CTC1):c.1994T>G (p.Val665Gly)
Allele change: Missense_V665G

Associated conditions / phenotypes

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.