Variant (rsID / SNP)

rs267607115

rs267607115 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,807,731. 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: 8:94807731
Cytoband: 8q22.1
HGVS: NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)
Allele change: Missense_F509S

Associated conditions / phenotypes

COACH syndrome 1|Joubert syndrome 6|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.