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Variant (rsID / SNP)

rs137853921

BBS5

rs137853921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS5. Location: chromosome 2, position 170,350,279. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BBS5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:170350279
Cytoband
2q31.1
HGVS
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)
Allele change
Missense_N184S

Associated conditions / phenotypes

Cone dystrophy|Bardet-Biedl syndrome

Public references

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