Variant (rsID / SNP)

rs56294552

rs56294552 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGF1R. Location: chromosome 15, position 99,459,314. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

IGF1RBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:99459314
Cytoband: 15q26.3
HGVS: NM_000875.5(IGF1R):c.1950G>T (p.Arg650=)
Allele change: Synonymous_R650R

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.