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Variant (rsID / SNP)

rs151023718

MKS1

rs151023718 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKS1. Location: chromosome 17, position 56,290,344. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MKS1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
17:56290344
Cytoband
17q22
HGVS
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
Allele change
Missense_D286G

Associated conditions / phenotypes

Bardet-Biedl syndrome 13|Meckel syndrome, type 1|Joubert syndrome 28|Joubert syndrome|Meckel-Gruber syndrome|Bardet-Biedl syndrome 13|Meckel syndrome, type 1

Public references

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