Variant (rsID / SNP)

rs119466002

rs119466002 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS7. Location: chromosome 4, position 122,775,945. Clinical significance in the table: Pathogenic.

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Reference-table entries

BBS7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:122775945
Cytoband: 4q27
HGVS: NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)
Allele change: Missense_T211I

Associated conditions / phenotypes

Bardet-Biedl syndrome 1/7, digenic|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.