Variant (rsID / SNP)

rs121912426

rs121912426 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGF1R. Location: chromosome 15, position 99,251,109. Clinical significance in the table: protective.

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Reference-table entries

IGF1RProtective

Clinical significance (as recorded): protective
Variant type: single nucleotide variant
Chromosome / position: 15:99251109
Cytoband: 15q26.3
HGVS: NM_000875.5(IGF1R):c.413G>A (p.Arg138Gln)
Allele change: Missense_R138Q

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.