Variant (rsID / SNP)

rs139053702

rs139053702 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS10. Location: chromosome 12, position 76,740,799. Clinical significance in the table: Benign.

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Reference-table entries

BBS10Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:76740799
Cytoband: 12q21.2
HGVS: NM_024685.4(BBS10):c.966T>C (p.Tyr322=)
Allele change: Synonymous_Y322Y

Associated conditions / phenotypes

Bardet-Biedl syndrome|Bardet-Biedl syndrome 10

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.