Variant (rsID / SNP)

rs1052371

rs1052371 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INSR. Location: chromosome 19, position 7,112,593. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

INSRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:7112593
Cytoband: 19p13.2
HGVS: NM_000208.4(INSR):c.*4474C>T
Allele change: Silent

Associated conditions / phenotypes

Leprechaunism syndrome|Pineal hyperplasia AND diabetes mellitus 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.