Variant (rsID / SNP)

rs386834183

rs386834183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,798,484. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TMEM67Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:94798484
Cytoband: 8q22.1
HGVS: NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu)
Allele change: Missense_R360L

Associated conditions / phenotypes

Meckel syndrome, type 3|Joubert syndrome|Meckel-Gruber 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.