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Variant (rsID / SNP)

rs374746113

PLA2G6

rs374746113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLA2G6. Location: chromosome 22, position 38,541,484. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PLA2G6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:38541484
Cytoband
22q13.1
HGVS
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
Allele change
Silent

Associated conditions / phenotypes

Iron accumulation in brain|Inborn genetic diseases|Infantile neuroaxonal dystrophy

Public references

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