Variant (rsID / SNP)

rs377546036

rs377546036 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CANT1. Location: chromosome 17, position 76,991,259. 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: 17:76991259
Cytoband: 17q25.3
HGVS: NM_001159773.2(CANT1):c.676G>A (p.Val226Met)
Allele change: Missense_V226M

Associated conditions / phenotypes

Desbuquois dysplasia 1|Epiphyseal dysplasia, multiple, 7

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.