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Variant (rsID / SNP)

rs56395521

INSR

rs56395521 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INSR. Location: chromosome 19, position 7,125,359. Clinical significance in the table: Uncertain significance.

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Reference-table entries

INSRUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
19:7125359
Cytoband
19p13.2
HGVS
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val)
Allele change
Missense_L1065V

Associated conditions / phenotypes

Insulin-resistant diabetes mellitus AND acanthosis nigricans|Leprechaunism syndrome|Pineal hyperplasia AND diabetes mellitus syndrome|Hyperinsulinism due to INSR deficiency

Public references

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