chr11:17426071:C>T Detail (hg19) (ABCC8)

Information

Genome

Assembly Position
hg19 chr11:17,426,071-17,426,071
hg38 chr11:17,404,524-17,404,524 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000352.4:c.3545G>A NP_000343.2:p.Arg1182Gln
NM_001287174.1:c.3548G>A NP_001274103.1:p.Arg1183Gln
Ensemble ENST00000684571.1:c.3386G>A ENST00000684571.1:p.Arg1129Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600509 OMIM
HGNC 59 HGNC
Ensembl ENSG00000006071 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2011-08-18 criteria provided, single submitter Neonatal diabetes mellitus germline Detail
Pathogenic 2019-06-17 no assertion criteria provided Diabetes mellitus, transient neonatal, 2 germline Detail
Pathogenic Likely pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2024-03-25 criteria provided, single submitter Hyperinsulinemic hypoglycemia, familial, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.133 Neonatal diabetes mellitus NA CLINVAR Detail
0.440 DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) AND Neonatal diabetes mellitus ClinVar Detail
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) AND Diabetes mellitus, transient neonatal, 2 ClinVar Detail
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) AND not provided ClinVar Detail
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) AND Hyperinsulinemic hypoglycemia, familial, 1 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs193922400 dbSNP
Genome
hg19
Position
chr11:17,426,071-17,426,071
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser