Variant (rsID / SNP)

rs35793208

rs35793208 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,792,887. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TMEM67Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:94792887
Cytoband: 8q22.1
HGVS: NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
Allele change: Missense_D180N

Associated conditions / phenotypes

Meckel-Gruber syndrome|Joubert syndrome|Meckel syndrome, type 3

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.