Variant (rsID / SNP)

rs115372194

rs115372194 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALLD. Location: chromosome 4, position 169,611,812. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PALLDConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:169611812
Cytoband: 4q32.3
HGVS: NM_001166108.2(PALLD):c.1394G>A (p.Arg465His)
Allele change: Missense_R465H

Associated conditions / phenotypes

Pancreatic cancer, susceptibility to, 1

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.