Variant (rsID / SNP)

rs886038738

rs886038738 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,821,076. 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: 8:94821076
Cytoband: 8q22.1
HGVS: NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)
Allele change: Synonymous_L735L

Associated conditions / phenotypes

Joubert syndrome 6|Meckel syndrome, type 3|Nephronophthisis 11|Meckel-Gruber syndrome|Joubert 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.