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Variant (rsID / SNP)

rs75295839

BBS4

rs75295839 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS4. Location: chromosome 15, position 73,002,101. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BBS4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:73002101
Cytoband
15q24.1
HGVS
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
Allele change
Missense_K46R

Associated conditions / phenotypes

Bardet-Biedl syndrome 1|Bardet-Biedl syndrome|Bardet-Biedl syndrome 4

Public references

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