Variant (rsID / SNP)

rs141777179

rs141777179 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLA2G6. Location: chromosome 22, position 38,509,628. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PLA2G6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:38509628
Cytoband: 22q13.1
HGVS: NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile)
Allele change: Missense_V464I

Associated conditions / phenotypes

Iron accumulation in brain|Infantile neuroaxonal dystrophy|PLA2G6-associated neurodegeneration

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.