Variant (rsID / SNP)

rs374514431

rs374514431 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NFU1. Location: chromosome 2, position 69,627,594. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NFU1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:69627594
Cytoband: 2p13.3
HGVS: NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)
Allele change: Missense_G67C

Associated conditions / phenotypes

Multiple mitochondrial dysfunctions syndrome 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.