Variant (rsID / SNP)
rs75225724
rs75225724 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RTTN. Location: chromosome 18, position 67,801,786. Clinical significance in the table: Benign.
Reference-table entries
RTTNBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:67801786
- Cytoband
- 18q22.2
- HGVS
- NM_173630.4(RTTN):c.2886-9A>G
- Allele change
- Silent
Associated conditions / phenotypes
Microcephalic primordial dwarfism due to RTTN deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.