Variant (rsID / SNP)

rs113994190

rs113994190 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS4. Location: chromosome 15, position 73,004,649. Clinical significance in the table: Pathogenic.

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Reference-table entries

BBS4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:73004649
Cytoband: 15q24.1
HGVS: NM_033028.5(BBS4):c.220+1G>C
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.