Variant (rsID / SNP)
rs201893408
rs201893408 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,808,198. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TMEM67Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:94808198
- Cytoband
- 8q22.1
- HGVS
- NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
- Allele change
- Missense_C534R
Associated conditions / phenotypes
Joubert syndrome 6|Nephronophthisis 11|Nephronophthisis|TMEM67-Related Disorders|Oligohydramnios|Joubert syndrome|Renal cyst|Meckel-Gruber syndrome|Joubert syndrome|Inborn genetic diseases|14 conditions|Joubert syndrome 6|Bardet-Biedl syndrome 14|Meckel syndrome, type 3|COACH syndrome 1|Nephronophthisis 11|RHYNS syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.