Variant (rsID / SNP)

rs374491359

rs374491359 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS4. Location: chromosome 5, position 52,942,136. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NDUFS4Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:52942136
Cytoband: 5q11.2
HGVS: NM_002495.4(NDUFS4):c.251G>A (p.Arg84His)
Allele change: Silent

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.