Variant (rsID / SNP)

rs267606701

rs267606701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CANT1. Location: chromosome 17, position 76,989,940. Clinical significance in the table: Pathogenic.

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Reference-table entries

CANT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:76989940
Cytoband: 17q25.3
HGVS: NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys)
Allele change: Missense_R300C

Associated conditions / phenotypes

Desbuquois dysplasia 1|Inborn genetic diseases

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.