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Variant (rsID / SNP)

rs386834048

MKS1

rs386834048 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKS1. Location: chromosome 17, position 56,293,449. 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
17:56293449
Cytoband
17q22
HGVS
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
Allele change
Synonymous_E139E

Associated conditions / phenotypes

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