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rs80356664

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356664(A;A)
Make rs80356664(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2160878
GeneINS, INS-IGF2
is asnp
is mentioned by
dbSNPrs80356664
ebirs80356664
HLIrs80356664
Exacrs80356664
Varsomers80356664
Maprs80356664
PheGenIrs80356664
hapmaprs80356664
1000 genomesrs80356664
hgdprs80356664
ensemblrs80356664
gopubmedrs80356664
geneviewrs80356664
scholarrs80356664
googlers80356664
pharmgkbrs80356664
gwascentralrs80356664
openSNPrs80356664
23andMers80356664
23andMe allrs80356664
SNP Nexus

SNPshotrs80356664
SNPdbers80356664
MSV3drs80356664
GWAS Ctlgrs80356664
Merged fromRs193929381
Max Magnitude0
OMIM176730
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80356664(A,C;A,C)
Alt rs80356664(A,C;A,C)
Reference rs80356664(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus Neonatal diabetes mellitus Diabetes mellitus
Variation info
Gene INS INS-IGF2
CLNDBN Permanent neonatal diabetes mellitus Neonatal diabetes mellitus Diabetes mellitus, insulin-dependent, 2
Reversed 1
HGVS NC_000011.9:g.2182108C>G; NC_000011.9:g.2182108C>T
CLNSRC UniProtKB (variants) OMIM Allelic Variant
CLNACC RCV000020213.2, RCV000020212.27, RCV000030072.2, RCV000117279.1,


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


[PMID 17855] Limitations of present drug therapy of cardiac arrhythmias--a review.


[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 18436707OA-icon.png] Neonatal diabetes mellitus.


[PMID 18840770OA-icon.png] Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies.


[PMID 20034470OA-icon.png] Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.


[PMID 20938745OA-icon.png] Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. [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.