Variant (rsID / SNP)

rs28939714

rs28939714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS3. Location: chromosome 11, position 47,603,692. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NDUFS3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:47603692
Cytoband: 11p11.2
HGVS: NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile)
Allele change: Missense_T145I

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 8|Neurodevelopmental delay

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.