chr11:102650424:C>G Detail (hg19) (MMP10)

Information

Genome

Assembly Position
hg19 chr11:102,650,424-102,650,424
hg38 chr11:102,779,693-102,779,693 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002425.2:c.158G>C NP_002416.1:p.Arg53Thr
Ensemble ENST00000279441.9:c.158G>C ENST00000279441.9:p.Arg53Thr
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 185260 OMIM
HGNC 7156 HGNC
Ensembl ENSG00000166670 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
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
0.129 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
Annotation

Annotations

DescrptionSourceLinks
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... 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
chr11:102,650,424-102,650,424
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8610
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)
120704
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.2847295864263E-6
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