Variant (rsID / SNP)

rs190184430

rs190184430 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS2, FCER1G. Location: chromosome 1, position 161,183,716. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NDUFS2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:161183716
Cytoband: 1q23.3
HGVS: NM_001377299.1(NDUFS2):c.1354+5G>A
Allele change: Silent

Associated conditions / phenotypes

Mitochondrial complex I deficiency, nuclear type 1

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.