Variant (rsID / SNP)

rs143191074

rs143191074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS5. Location: chromosome 2, position 170,350,312. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BBS5Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:170350312
Cytoband: 2q31.1
HGVS: NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)
Allele change: Missense_D195G

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.