Variant (rsID / SNP)
rs2275111
rs2275111 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SFXN4. Location: chromosome 10, position 120,917,445. Clinical significance in the table: Benign.
Reference-table entries
SFXN4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:120917445
- Cytoband
- 10q26.11
- HGVS
- NM_213649.2(SFXN4):c.415-6C>T
- Allele change
- Silent
Associated conditions / phenotypes
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.