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rs80356671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356671(A;A)
Make rs80356671(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2159898
GeneINS, INS-IGF2
is asnp
is mentioned by
dbSNPrs80356671
ebirs80356671
HLIrs80356671
Exacrs80356671
Varsomers80356671
Maprs80356671
PheGenIrs80356671
hapmaprs80356671
1000 genomesrs80356671
hgdprs80356671
ensemblrs80356671
gopubmedrs80356671
geneviewrs80356671
scholarrs80356671
googlers80356671
pharmgkbrs80356671
gwascentralrs80356671
openSNPrs80356671
23andMers80356671
23andMe allrs80356671
SNP Nexus

SNPshotrs80356671
SNPdbers80356671
MSV3drs80356671
GWAS Ctlgrs80356671
Merged fromRs193929388
Max Magnitude0
OMIM176730
Desc
Variant0011
Relatedalso
ClinVar
Risk rs80356671(A,C;A,C)
Alt rs80356671(A,C;A,C)
Reference rs80356671(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene INS IGF2 INS-IGF2
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.2181128C>G; NC_000011.9:g.2181128C>T
CLNSRC UniProtKB (variants) OMIM Allelic Variant
CLNACC RCV000059612.1, RCV000014319.26,


[PMID 17855560OA-icon.png] Insulin gene mutations as a cause of permanent neonatal diabetes.


[PMID 18162506] Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. [PMID 17047922] Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.


[PMID 18171712] Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.