chr11:17417461:C>A Detail (hg19) (ABCC8)

Information

Genome

Assembly Position
hg19 chr11:17,417,461-17,417,461
hg38 chr11:17,395,914-17,395,914 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001287174.1:c.4139G>T NP_001274103.1:p.Arg1380Leu
NM_000352.4:c.4136G>T NP_000343.2:p.Arg1379Leu
Ensemble ENST00000302539.9:c.4139G>T ENST00000302539.9:p.Arg1380Leu
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 2019-07-16 criteria provided, single submitter not provided germline 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.4136G>T (p.Arg1379Leu) AND Neonatal diabetes mellitus ClinVar Detail
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu) AND not provided 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
rs193922401 dbSNP
Genome
hg19
Position
chr11:17,417,461-17,417,461
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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