Variant (rsID / SNP)
rs1799816
rs1799816 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INSR. Location: chromosome 19, position 7,125,518. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
INSRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:7125518
- Cytoband
- 19p13.2
- HGVS
- NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
- Allele change
- Missense_V1012M
Associated conditions / phenotypes
Type 2 diabetes mellitus|Insulin-resistant diabetes mellitus AND acanthosis nigricans|Monogenic diabetes|Bailey-Bloch congenital myopathy|Pineal hyperplasia AND diabetes mellitus syndrome|Leprechaunism syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.