Variant (rsID / SNP)

rs13306449

rs13306449 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INSR. Location: chromosome 19, position 7,117,134. Clinical significance in the table: Likely benign.

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Reference-table entries

INSRLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:7117134
Cytoband: 19p13.2
HGVS: NM_000208.4(INSR):c.4082A>G (p.Tyr1361Cys)
Allele change: Missense_Y1361C

Associated conditions / phenotypes

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