Variant (rsID / SNP)
rs145226920
rs145226920 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGHMBP2. Location: chromosome 11, position 68,701,332. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
IGHMBP2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:68701332
- Cytoband
- 11q13.3
- HGVS
- NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
- Allele change
- Nonsense_C496X
Associated conditions / phenotypes
Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|Charcot-Marie-Tooth disease|Neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.