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Variant (rsID / SNP)

rs139658279

BBS10

rs139658279 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS10. Location: chromosome 12, position 76,741,000. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BBS10Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:76741000
Cytoband
12q21.2
HGVS
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
Allele change
Missense_M255I

Associated conditions / phenotypes

Bardet-Biedl syndrome 1|Bardet-Biedl syndrome 10|Bardet-Biedl syndrome

Public references

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