Variant (rsID / SNP)
rs386834180
rs386834180 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,793,953. 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
- 8:94793953
- Cytoband
- 8q22.1
- HGVS
- NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
- Allele change
- Missense_L268S
Associated conditions / phenotypes
Meckel syndrome, type 3|Meckel-Gruber syndrome|Joubert syndrome 6|6 conditions|Joubert syndrome|Meckel-Gruber syndrome|TMEM67-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.