Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201785599

MKKS

rs201785599 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKKS. Location: chromosome 20, position 10,393,406. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MKKSConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:10393406
Cytoband
20p12.2
HGVS
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro)
Allele change
Missense_S253P

Associated conditions / phenotypes

Bardet-Biedl syndrome|McKusick-Kaufman syndrome|McKusick-Kaufman syndrome|Bardet-Biedl syndrome 6

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.