Variant (rsID / SNP)

rs587784353

rs587784353 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLA2G6. Location: chromosome 22, position 38,508,218. Clinical significance in the table: Pathogenic.

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Reference-table entries

PLA2G6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 22:38508218
Cytoband: 22q13.1
HGVS: NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)

Associated conditions / phenotypes

Infantile neuroaxonal dystrophy|Neurodegeneration with brain iron accumulation 2B|Iron accumulation in brain

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.