chr11:17404527:A>C Detail (hg38) (ABCC8)

Information

Genome

Assembly Position
hg19 chr11:17,426,074-17,426,074 View the variant detail on this assembly version.
hg38 chr11:17,404,527-17,404,527

HGVS

Type Transcript Protein
RefSeq NM_001287174.1:c.3545T>G NP_001274103.1:p.Phe1182Cys
NM_000352.4:c.3542T>G NP_000343.2:p.Phe1181Cys
Ensemble ENST00000302539.9:c.3545T>G ENST00000302539.9:p.Phe1182Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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
Uncertain significance criteria provided, single submitter Maturity onset diabetes mellitus in young somatic Detail
Uncertain significance criteria provided, single submitter Transitory neonatal diabetes mellitus somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.133 Neonatal diabetes mellitus NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys) AND Neonatal diabetes mellitus ClinVar Detail
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys) AND Maturity onset diabetes mellitus in young ClinVar Detail
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys) AND Transitory neonatal diabetes mellitus ClinVar 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
rs193922399 dbSNP
Genome
hg38
Position
chr11:17,404,527-17,404,527
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Genome browser