Variant (rsID / SNP)

rs148374859

rs148374859 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS10. Location: chromosome 12, position 76,741,492. Clinical significance in the table: Pathogenic.

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Reference-table entries

BBS10Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:76741492
Cytoband: 12q21.2
HGVS: NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
Allele change: Missense_C91W

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.