Variant (rsID / SNP)

rs150395094

rs150395094 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS4. Location: chromosome 15, position 73,027,466. 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: 15:73027466
Cytoband: 15q24.1
HGVS: NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)
Allele change: Missense_N350S

Associated conditions / phenotypes

Bardet-Biedl syndrome

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.