Variant (rsID / SNP)

rs118203956

rs118203956 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDSS2. Location: chromosome 6, position 107,475,878. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PDSS2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:107475878
Cytoband: 6q21
HGVS: NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)
Allele change: Missense_S382L

Associated conditions / phenotypes

Coenzyme Q10 deficiency, primary, 3|Nephrotic syndrome

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.