Variant (rsID / SNP)
rs2307441
rs2307441 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCI, POLG. Location: chromosome 15, position 89,861,826. Clinical significance in the table: Benign.
Reference-table entries
FANCIBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:89861826
- Cytoband
- 15q26.1
- HGVS
- NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
- Allele change
- Missense_E1143G
Associated conditions / phenotypes
Mitochondrial disease|Fanconi anemia|Progressive sclerosing poliodystrophy|6 conditions|Seizure|Association with valproate-induced liver toxicity|POLG-Related Spectrum Disorders|Hereditary spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.