Variant (rsID / SNP)

rs191685707

rs191685707 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKD1. Location: chromosome 16, position 2,160,358. Clinical significance in the table: Likely benign.

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Reference-table entries

PKD1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:2160358
Cytoband: 16p13.3
HGVS: NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met)
Allele change: Missense_V1604M

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.