Variant (rsID / SNP)

rs121913156

rs121913156 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INSR. Location: chromosome 19, position 7,120,688. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

INSRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:7120688
Cytoband: 19p13.2
HGVS: NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln)
Allele change: Missense_R1201Q

Associated conditions / phenotypes

Insulin-resistant diabetes mellitus AND acanthosis nigricans|Hyperinsulinism due to INSR deficiency

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.