Variant (rsID / SNP)

rs202138550

rs202138550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTC1. Location: chromosome 17, position 8,133,261. 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: 17:8133261
Cytoband: 17p13.1
HGVS: NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)
Allele change: Missense_R987W

Associated conditions / phenotypes

Cerebroretinal microangiopathy with calcifications and cysts 1|Dyskeratosis congenita

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.