Variant (rsID / SNP)

rs116816976

rs116816976 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PARS2. Location: chromosome 1, position 55,224,773. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PARS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:55224773
Cytoband: 1p32.3
HGVS: NM_152268.4(PARS2):c.62T>G (p.Leu21Arg)
Allele change: Missense_L21R

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.