Variant (rsID / SNP)

rs730882150

rs730882150 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIFBP. Location: chromosome 10, position 70,764,875. Clinical significance in the table: Pathogenic.

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Reference-table entries

KIFBPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:70764875
Cytoband: 10q22.1
HGVS: NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter)
Allele change: Nonsense_S200X

Associated conditions / phenotypes

Goldberg-Shprintzen megacolon syndrome

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.