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Variant (rsID / SNP)

rs121908178

BBS2

rs121908178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS2. Location: chromosome 16, position 56,536,366. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BBS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:56536366
Cytoband
16q13
HGVS
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)
Allele change
Missense_R315W

Associated conditions / phenotypes

Bardet-biedl syndrome 2/4, digenic|Bardet-Biedl syndrome 2|Bardet-Biedl syndrome|Autosomal recessive retinitis pigmentosa

Public references

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