Variant (rsID / SNP)

rs755459875

rs755459875 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM216. Location: chromosome 11, position 61,165,414. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TMEM216Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:61165414
Cytoband: 11q12.2
HGVS: NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)
Allele change: Nonsense_L72X

Associated conditions / phenotypes

Joubert syndrome 2|Joubert syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.