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Variant (rsID / SNP)

rs386834182

TMEM67

rs386834182 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,798,481. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TMEM67Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:94798481
Cytoband
8q22.1
HGVS
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
Allele change
Missense_R359Q

Associated conditions / phenotypes

Meckel syndrome, type 3|Joubert syndrome and related disorders|Joubert syndrome|Meckel-Gruber syndrome

Public references

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