Variant (rsID / SNP)

rs202149403

rs202149403 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,792,861. 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: 8:94792861
Cytoband: 8q22.1
HGVS: NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
Allele change: Missense_M171T

Associated conditions / phenotypes

Joubert syndrome 6|Nephronophthisis|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.