Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs147714487

CTC1

rs147714487 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTC1. Location: chromosome 17, position 8,131,548. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CTC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:8131548
Cytoband
17p13.1
HGVS
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter)
Allele change
Nonsense_R1202X

Associated conditions / phenotypes

Dyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.