chr11:17409449:C>A Detail (hg19) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,409,449-17,409,449
hg38 chr11:17,387,902-17,387,902 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001166290.1:c.-16-56G>T
NM_000525.3:c.190G>T NP_000516.3:p.Val64Leu
Ensemble ENST00000528731.1:c.-16-56G>T
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
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600937 OMIM
HGNC 6257 HGNC
Ensembl ENSG00000187486 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.010 epilepsy We report two novel mutations on the same haplotype (cis), F60Y and V64L, in the... BeFree 20022885 Detail
Annotation

Annotations

DescrptionSourceLinks
We report two novel mutations on the same haplotype (cis), F60Y and V64L, in the slide helix of Kir6... 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
-
Genome
hg19
Position
chr11:17,409,449-17,409,449
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Homozygous Counts in All Race (ExAC)
1
East Asian Chromosome Counts (ExAC)
8652
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)
121118
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
6
Allele Frequency in All Race (ExAC)
6.605128882577322E-5
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