Variant (rsID / SNP)

rs17006092

rs17006092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS12. Location: chromosome 4, position 123,664,256. Clinical significance in the table: Benign.

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Reference-table entries

BBS12Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:123664256
Cytoband: 4q27
HGVS: NM_152618.3(BBS12):c.1209G>A (p.Val403=)
Allele change: Synonymous_V403V

Associated conditions / phenotypes

Bardet-Biedl syndrome|Bardet-Biedl syndrome 1|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.