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Variant (rsID / SNP)

rs113624356

BBS1

rs113624356 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS1. Location: chromosome 11, position 66,293,652. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BBS1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:66293652
Cytoband
11q13.2
HGVS
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
Allele change
Missense_M390R

Associated conditions / phenotypes

Bardet-Biedl syndrome 1|Bardet-Biedl syndrome|Retinal dystrophy|Retinitis pigmentosa|Usher syndrome|See cases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.