Variant (rsID / SNP)

rs2236379

rs2236379 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKCQ. Location: chromosome 10, position 6,527,143. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PRKCQBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:6527143
Cytoband: 10p15.1
HGVS: NM_006257.5(PRKCQ):c.989C>T (p.Pro330Leu)
Allele change: Missense_P294L

Associated conditions / phenotypes

Inflammatory bowel disease 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.