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Variant (rsID / SNP)

rs142813109

MKS1

rs142813109 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKS1. Location: chromosome 17, position 56,294,075. 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
17:56294075
Cytoband
17q22
HGVS
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
Allele change
Missense_D71E

Associated conditions / phenotypes

Bardet-Biedl syndrome 13|Meckel syndrome, type 1|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.