Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs148019349

PCK2NRL

rs148019349 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCK2, NRL. Location: chromosome 14, position 24,572,466. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PCK2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:24572466
Cytoband
14q12
HGVS
NM_004563.4(PCK2):c.1468+2T>C
Allele change
Silent

Associated conditions / phenotypes

Phosphoenolpyruvate carboxykinase deficiency, mitochondrial

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.