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Variant (rsID / SNP)

rs201998680

MKS1

rs201998680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKS1. Location: chromosome 17, position 56,288,030. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MKS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:56288030
Cytoband
17q22
HGVS
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)
Allele change
Synonymous_L338L

Associated conditions / phenotypes

Meckel syndrome, type 1|Bardet-Biedl syndrome 13|Meckel-Gruber syndrome|Joubert syndrome

Public references

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