Variant (rsID / SNP)

rs199910690

rs199910690 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKS1. Location: chromosome 17, position 56,283,519. 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: 17:56283519
Cytoband: 17q22
HGVS: NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
Allele change: Synonymous_S506S

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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