Variant (rsID / SNP)

rs141383988

rs141383988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCK2, NRL. Location: chromosome 14, position 24,572,401. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PCK2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:24572401
Cytoband: 14q12
HGVS: NM_004563.4(PCK2):c.1405C>T (p.Arg469Cys)
Allele change: Silent

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.