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Variant (rsID / SNP)

rs138036823

BBS12

rs138036823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS12. Location: chromosome 4, position 123,663,163. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BBS12Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:123663163
Cytoband
4q27
HGVS
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
Allele change
Missense_I39T

Associated conditions / phenotypes

Bardet-Biedl syndrome 12|Bardet-Biedl syndrome 1|Bardet-Biedl syndrome

Public references

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