Variant (rsID / SNP)

rs141340867

rs141340867 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDPCP, MDH1. Location: chromosome 2, position 63,815,338. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

WDPCPBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:63815338
Cytoband: 2p15
HGVS: NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln)
Allele change: Silent

Associated conditions / phenotypes

Bardet-Biedl syndrome|Bardet-Biedl syndrome 15

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.