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Variant (rsID / SNP)

rs863225235

TMEM67

rs863225235 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,794,672. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TMEM67Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
8:94794672
Cytoband
8q22.1
HGVS
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)
Allele change
Missense_T291K

Associated conditions / phenotypes

Joubert syndrome 6|Joubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 3|Nephronophthisis 11|COACH syndrome 1|Joubert syndrome 6|Bardet-Biedl syndrome 14

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.