Variant (rsID / SNP)
rs117195541
rs117195541 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,817,064. Clinical significance in the table: Benign.
Reference-table entries
TMEM67Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:94817064
- Cytoband
- 8q22.1
- HGVS
- NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)
- Allele change
- Synonymous_D718D
Associated conditions / phenotypes
Joubert syndrome|Meckel-Gruber syndrome|Bardet-Biedl syndrome 14|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.