Variant (rsID / SNP)
rs1139851
rs1139851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIFM1. Clinical significance in the table: Benign.
Reference-table entries
AIFM1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Cytoband
- Xq26.1
- HGVS
- NM_004208.4(AIFM1):c.273T>C (p.Asp91=)
- Allele change
- Synonymous_D91D
Associated conditions / phenotypes
Severe X-linked mitochondrial encephalomyopathy|Deafness, X-linked 5|Charcot-Marie-Tooth disease|Combined oxidative phosphorylation deficiency|Charcot-Marie-Tooth Neuropathy X|Spondyloepimetaphyseal dysplasia, Bieganski type
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.