Variant (rsID / SNP)

rs1057519073

rs1057519073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFB11. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NDUFB11Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.3
HGVS: NM_001135998.3(NDUFB11):c.361G>A (p.Glu121Lys)
Allele change: Missense_E131K

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 30|Linear skin defects with multiple congenital anomalies 3

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.