Variant (rsID / SNP)

rs281797258

rs281797258 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKKS. Location: chromosome 20, position 10,393,913. Clinical significance in the table: Pathogenic.

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Reference-table entries

MKKSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:10393913
Cytoband: 20p12.2
HGVS: NM_170784.3(MKKS):c.250C>T (p.His84Tyr)
Allele change: Missense_H84Y

Associated conditions / phenotypes

Bardet-Biedl syndrome|McKusick-Kaufman 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.