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Variant (rsID / SNP)

rs185980830

WDPCP

rs185980830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDPCP. Location: chromosome 2, position 63,540,407. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

WDPCPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:63540407
Cytoband
2p15
HGVS
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=)
Allele change
Silent

Associated conditions / phenotypes

Bardet-Biedl syndrome 15|Bardet-Biedl syndrome

Public references

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