Variant (rsID / SNP)

rs145392789

rs145392789 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS12. Location: chromosome 4, position 123,664,546. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BBS12Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:123664546
Cytoband: 4q27
HGVS: NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)
Allele change: Missense_V500A

Associated conditions / phenotypes

Bardet-Biedl syndrome|Bardet-Biedl syndrome 12

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.