Variant (rsID / SNP)

rs1799817

rs1799817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INSR. Location: chromosome 19, position 7,125,297. Clinical significance in the table: Benign.

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Reference-table entries

INSRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:7125297
Cytoband: 19p13.2
HGVS: NM_000208.4(INSR):c.3255C>T (p.His1085=)
Allele change: Synonymous_H1085H

Associated conditions / phenotypes

Pineal hyperplasia AND diabetes mellitus syndrome|Leprechaunism syndrome|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.