Variant (rsID / SNP)

rs137853107

rs137853107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,803,510. 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: 8:94803510
Cytoband: 8q22.1
HGVS: NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)
Allele change: Missense_Y432C

Associated conditions / phenotypes

Joubert syndrome 6|COACH syndrome 1|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.