Variant (rsID / SNP)

rs188658691

rs188658691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTC1. Location: chromosome 17, position 8,146,311. 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: 17:8146311
Cytoband: 17p13.1
HGVS: NM_025099.6(CTC1):c.189C>G (p.Leu63=)
Allele change: Synonymous_L63L

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.