Variant (rsID / SNP)
rs115563233
rs115563233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,811,986. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TMEM67Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:94811986
- Cytoband
- 8q22.1
- HGVS
- NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)
- Allele change
- Synonymous_Q666Q
Associated conditions / phenotypes
Nephronophthisis|Meckel-Gruber syndrome|Joubert syndrome|Meckel syndrome, type 3|Nephronophthisis 11|Joubert syndrome 6
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.