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Variant (rsID / SNP)

rs200643329

CTC1

rs200643329 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTC1. Location: chromosome 17, position 8,134,785. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CTC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:8134785
Cytoband
17p13.1
HGVS
NM_025099.6(CTC1):c.2478A>G (p.Thr826=)
Allele change
Synonymous_T826T

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.