Variant (rsID / SNP)

rs141845729

rs141845729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDPCP. Location: chromosome 2, position 63,605,540. Clinical significance in the table: Uncertain significance.

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Reference-table entries

WDPCPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:63605540
Cytoband: 2p15
HGVS: NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val)
Allele change: Silent

Associated conditions / phenotypes

Bardet-Biedl syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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