Variant (rsID / SNP)

rs201987100

rs201987100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS4. Location: chromosome 15, position 73,024,017. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BBS4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:73024017
Cytoband: 15q24.1
HGVS: NM_033028.5(BBS4):c.986C>T (p.Ala329Val)
Allele change: Missense_A329V

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.