Variant (rsID / SNP)
rs137853108
rs137853108 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,777,845. Clinical significance in the table: Pathogenic.
Reference-table entries
TMEM67Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:94777845
- Cytoband
- 8q22.1
- HGVS
- NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
- Allele change
- Nonsense_R127X
Associated conditions / phenotypes
Joubert syndrome 6|Meckel syndrome, type 3|TMEM67-Related Disorders|Joubert syndrome|Meckel-Gruber syndrome|RHYNS syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.