Variant (rsID / SNP)

rs139554429

rs139554429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LONP1. Location: chromosome 19, position 5,705,841. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LONP1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:5705841
Cytoband: 19p13.3
HGVS: NM_004793.4(LONP1):c.1309G>A (p.Val437Ile)
Allele change: Missense_V437I

Associated conditions / phenotypes

See cases

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.