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Variant (rsID / SNP)

rs201108965

TMEM216

rs201108965 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM216. Location: chromosome 11, position 61,161,437. 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
11:61161437
Cytoband
11q12.2
HGVS
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
Allele change
Missense_R12H

Associated conditions / phenotypes

Joubert syndrome 2|Meckel syndrome, type 2|Joubert syndrome|Inborn genetic diseases|TMEM216-Related Disorders|Joubert syndrome 2|Meckel syndrome, type 2

Public references

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