Variant (rsID / SNP)

rs2963

rs2963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INSR. Location: chromosome 19, position 7,163,154. 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: 19:7163154
Cytoband: 19p13.2
HGVS: NM_000208.4(INSR):c.1918C>T (p.Leu640=)
Allele change: Synonymous_L640L

Associated conditions / phenotypes

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

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.