Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201619500

MKS1

rs201619500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKS1. Location: chromosome 17, position 56,284,465. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MKS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:56284465
Cytoband
17q22
HGVS
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
Allele change
Missense_R463Q

Associated conditions / phenotypes

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

Public references

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