Variant (rsID / SNP)

rs200688985

rs200688985 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS1. Location: chromosome 11, position 66,283,020. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BBS1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 11:66283020
Cytoband: 11q13.2
HGVS: NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
Allele change: Missense_D148N

Associated conditions / phenotypes

Bardet-Biedl syndrome|Bardet-Biedl syndrome 1

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.