Variant (rsID / SNP)

rs267607114

rs267607114 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,805,484. Clinical significance in the table: Pathogenic.

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Reference-table entries

TMEM67Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:94805484
Cytoband: 8q22.1
HGVS: NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu)
Allele change: Missense_G464E

Associated conditions / phenotypes

Joubert syndrome 6

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.