Variant (rsID / SNP)
rs3110234
rs3110234 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIFR. Location: chromosome 5, position 38,486,065. Clinical significance in the table: Benign.
Reference-table entries
LIFRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:38486065
- Cytoband
- 5p13.1
- HGVS
- NM_001127671.2(LIFR):c.2353G>A (p.Val785Ile)
- Allele change
- Missense_V785I
Associated conditions / phenotypes
Stuve-Wiedemann syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.