Variant (rsID / SNP)

rs373458861

rs373458861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS10. Location: chromosome 12, position 76,742,097. 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: 12:76742097
Cytoband: 12q21.2
HGVS: NM_024685.4(BBS10):c.42G>A (p.Ala14=)
Allele change: Synonymous_A14A

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.