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Variant (rsID / SNP)

rs749351351

TMEM216

rs749351351 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM216. Location: chromosome 11, position 61,165,436. 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
11:61165436
Cytoband
11q12.2
HGVS
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
Allele change
Synonymous_A79A

Associated conditions / phenotypes

Joubert syndrome|Meckel syndrome, type 2|Joubert syndrome 2

Public references

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