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Variant (rsID / SNP)

rs57932685

TMEM216

rs57932685 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM216. Location: chromosome 11, position 61,161,430. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TMEM216Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:61161430
Cytoband
11q12.2
HGVS
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
Allele change
Missense_V10L

Associated conditions / phenotypes

Joubert syndrome|Joubert syndrome 2

Public references

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