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Variant (rsID / SNP)

rs146588336

INSR

rs146588336 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INSR. Location: chromosome 19, position 7,132,173. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

INSRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:7132173
Cytoband
19p13.2
HGVS
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu)
Allele change
Missense_D946E

Associated conditions / phenotypes

Insulin-resistant diabetes mellitus AND acanthosis nigricans|Pineal hyperplasia AND diabetes mellitus syndrome|Leprechaunism syndrome|Monogenic diabetes

Public references

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