Variant (rsID / SNP)

rs142434516

rs142434516 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS9. Location: chromosome 7, position 33,573,603. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BBS9Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:33573603
Cytoband: 7p14.3
HGVS: NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln)
Allele change: Silent

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.