Variant (rsID / SNP)

rs758948621

rs758948621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM67. Location: chromosome 8, position 94,809,557. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TMEM67Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:94809557
Cytoband: 8q22.1
HGVS: NM_153704.6(TMEM67):c.1961-2A>C
Allele change: Silent

Associated conditions / phenotypes

COACH syndrome 1|Joubert syndrome 6

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.