Variant (rsID / SNP)

rs200137992

rs200137992 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTC1. Location: chromosome 17, position 8,141,754. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CTC1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:8141754
Cytoband: 17p13.1
HGVS: NM_025099.6(CTC1):c.391G>A (p.Gly131Arg)
Allele change: Missense_G131R

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.