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Variant (rsID / SNP)

rs199959383

WDPCP

rs199959383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDPCP. Location: chromosome 2, position 63,631,633. 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
2:63631633
Cytoband
2p15
HGVS
NM_015910.7(WDPCP):c.985G>A (p.Val329Met)
Allele change
Silent

Associated conditions / phenotypes

Bardet-Biedl syndrome|Bardet-Biedl syndrome 15

Public references

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