Variant (rsID / SNP)

rs768933093

rs768933093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS10. Location: chromosome 12, position 76,741,994. 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: 12:76741994
Cytoband: 12q21.2
HGVS: NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
Allele change: Missense_R49W

Associated conditions / phenotypes

Inborn genetic diseases|Bardet-Biedl syndrome 10|6 conditions|Bardet-Biedl syndrome|Retinal dystrophy

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.