Variant (rsID / SNP)

rs144060377

rs144060377 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CANT1. Location: chromosome 17, position 76,993,649. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CANT1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:76993649
Cytoband: 17q25.3
HGVS: NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln)
Allele change: Missense_R19Q

Associated conditions / phenotypes

Desbuquois dysplasia 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.