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Variant (rsID / SNP)

rs35201073

PARS2

rs35201073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PARS2. Location: chromosome 1, position 55,223,744. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PARS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:55223744
Cytoband
1p32.3
HGVS
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)
Allele change
Missense_P364R

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 75

Public references

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