Variant (rsID / SNP)
rs3087374
rs3087374 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCI, POLG. Location: chromosome 15, position 89,859,994. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
FANCIBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:89859994
- Cytoband
- 15q26.1
- HGVS
- NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
- Allele change
- Silent
Associated conditions / phenotypes
Fanconi anemia|POLG-Related Spectrum Disorders|Seizure|Progressive sclerosing poliodystrophy|Fanconi anemia complementation group I|Hereditary spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.