Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs141521925

BBS10

rs141521925 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS10. Location: chromosome 12, position 76,740,029. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BBS10Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:76740029
Cytoband
12q21.2
HGVS
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
Allele change
Missense_K579R

Associated conditions / phenotypes

Bardet-Biedl syndrome|Bardet-Biedl syndrome 10

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.