Variant (rsID / SNP)
rs121913145
rs121913145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INSR. Location: chromosome 19, position 7,184,594. Clinical significance in the table: Pathogenic.
Reference-table entries
INSRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:7184594
- Cytoband
- 19p13.2
- HGVS
- NM_000208.4(INSR):c.707A>G (p.His236Arg)
- Allele change
- Missense_H236R
Associated conditions / phenotypes
Leprechaunism syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.