Variant (rsID / SNP)

rs202102193

rs202102193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS7. Location: chromosome 4, position 122,782,720. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BBS7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:122782720
Cytoband: 4q27
HGVS: NM_176824.3(BBS7):c.280A>T (p.Thr94Ser)
Allele change: Missense_T94S

Associated conditions / phenotypes

Bardet-Biedl syndrome|Bardet-Biedl syndrome 7

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.