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Variant (rsID / SNP)

rs74315394

MKKS

rs74315394 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKKS. Location: chromosome 20, position 10,393,439. 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
20:10393439
Cytoband
20p12.2
HGVS
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
Allele change
Missense_A242S

Associated conditions / phenotypes

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

Public references

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