Variant (rsID / SNP)

rs76863441

rs76863441 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLA2G7. Location: chromosome 6, position 46,677,098. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PLA2G7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:46677098
Cytoband: 6p12.3
HGVS: NM_005084.4(PLA2G7):c.835G>T (p.Val279Phe)
Allele change: Missense_V279F

Associated conditions / phenotypes

Platelet-activating factor acetylhydrolase deficiency

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.