Variant (rsID / SNP)

rs760165634

rs760165634 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS7. Location: chromosome 4, position 122,775,862. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BBS7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 4:122775862
Cytoband: 4q27
HGVS: NM_176824.3(BBS7):c.712_715del (p.Arg238fs)

Associated conditions / phenotypes

Bardet-Biedl syndrome|Retinal dystrophy|Bardet-Biedl syndrome 7

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.