Variant (rsID / SNP)

rs193922921

rs193922921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF22. Location: chromosome 16, position 29,809,962. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KIF22Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:29809962
Cytoband: 16p11.2
HGVS: NM_007317.3(KIF22):c.443C>T (p.Pro148Leu)
Allele change: Missense_P148L

Associated conditions / phenotypes

Spondyloepimetaphyseal dysplasia with multiple dislocations|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.