Variant (rsID / SNP)

rs886043841

rs886043841 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS10. Location: chromosome 12, position 76,740,254. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BBS10Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 12:76740254
Cytoband: 12q21.2
HGVS: NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)

Associated conditions / phenotypes

Bardet-Biedl syndrome 10|Bardet-Biedl 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.