Variant (rsID / SNP)

rs2229765

rs2229765 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGF1R. Location: chromosome 15, position 99,478,225. Clinical significance in the table: Benign.

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Reference-table entries

IGF1RBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:99478225
Cytoband: 15q26.3
HGVS: NM_000875.5(IGF1R):c.3129G>A (p.Glu1043=)
Allele change: Synonymous_E1043E

Associated conditions / phenotypes

Growth delay due to insulin-like growth factor I resistance

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.