Variant (rsID / SNP)

rs200472799

rs200472799 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFAF1. Location: chromosome 15, position 41,689,043. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NDUFAF1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:41689043
Cytoband: 15q15.1
HGVS: NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser)
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.