chr11:17483325:G>A Detail (hg19) (ABCC8)

Information

Genome

Assembly Position
hg19 chr11:17,483,325-17,483,325
hg38 chr11:17,461,778-17,461,778 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001287174.1:c.627C>T NP_001274103.1:p.Asp209=
NM_000352.4:c.627C>T NP_000343.2:p.Asp209=
Ensemble ENST00000302539.9:c.627C>T ENST00000302539.9:p.Asp209=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely benign
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 benign 2024-01-15 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.484 DIABETES MELLITUS, PERMANENT NEONATAL NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000352.6(ABCC8):c.627C>T (p.Asp209=) 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
rs80356640 dbSNP
Genome
hg19
Position
chr11:17,483,325-17,483,325
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121384
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.295327225993541E-5
Genome browser