Variant (rsID / SNP)

rs121913148

rs121913148 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INSR. Location: chromosome 19, position 7,125,493. Clinical significance in the table: Pathogenic.

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Reference-table entries

INSRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:7125493
Cytoband: 19p13.2
HGVS: NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln)
Allele change: Missense_R1020Q

Associated conditions / phenotypes

Insulin-resistant diabetes mellitus AND acanthosis nigricans

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.