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Variant (rsID / SNP)

rs115660279

TMEM67

rs115660279 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,767,328. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TMEM67Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:94767328
Cytoband
8q22.1
HGVS
NM_153704.6(TMEM67):c.186T>C (p.Cys62=)
Allele change
Silent

Associated conditions / phenotypes

Meckel-Gruber syndrome|Joubert syndrome|Meckel syndrome, type 3|Joubert syndrome 6|Nephronophthisis 11

Public references

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