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Variant (rsID / SNP)

rs74315398

MKKS

rs74315398 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKKS. Location: chromosome 20, position 10,393,333. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MKKSConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:10393333
Cytoband
20p12.2
HGVS
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
Allele change
Missense_L277P

Associated conditions / phenotypes

Bardet-Biedl syndrome 6|Inborn genetic diseases|Bardet-Biedl syndrome|McKusick-Kaufman syndrome

Public references

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