Variant (rsID / SNP)

rs886037834

rs886037834 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKD1L1. Location: chromosome 7, position 47,886,558. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PKD1L1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:47886558
Cytoband: 7p12.3
HGVS: NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser)
Allele change: Missense_C1691S

Associated conditions / phenotypes

Situs inversus|Heterotaxy, visceral, 8, autosomal

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.