chr11:102865911:T>G Detail (hg38) (MMP12)

Information

Genome

Assembly Position
hg19 chr11:102,736,642-102,736,642 View the variant detail on this assembly version.
hg38 chr11:102,865,911-102,865,911

HGVS

Type Transcript Protein
RefSeq NM_002426.5:c.1070A>C NP_002417.2:p.Asn357Thr
Ensemble ENST00000571244.3:c.1070A>C ENST00000571244.3:p.Asn357Thr
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 601046 OMIM
HGNC 7158 HGNC
Ensembl ENSG00000262406 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv375309400 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
0.009 Malignant neoplasm of lung We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... BeFree 16311244 Detail
0.002 Carcinoma of lung We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... BeFree 16311244 Detail
0.001 Carcinoma of lung We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... BeFree 16311244 Detail
0.016 Malignant neoplasm of lung We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... BeFree 16311244 Detail
0.025 Chronic Obstructive Airway Disease To investigate the association of 3 polymorphisms of MMP genes (MMP-1 -1607G--&g... BeFree 20160424 Detail
<0.001 Aggressive periodontitis, generalized MMP-2 -735C/T and MMP-12 357Asn/Ser polymorphisms are not related to GAgP. BeFree 18052707 Detail
<0.001 Aggressive periodontitis, generalized MMP-2 -735C/T and MMP-12 357Asn/Ser polymorphisms are not related to GAgP. BeFree 18052707 Detail
Annotation

Annotations

DescrptionSourceLinks
We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... DisGeNET Detail
We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... DisGeNET Detail
We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... DisGeNET Detail
We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... DisGeNET Detail
To investigate the association of 3 polymorphisms of MMP genes (MMP-1 -1607G--&gt;GG, MMP-9 -1562C--... DisGeNET Detail
MMP-2 -735C/T and MMP-12 357Asn/Ser polymorphisms are not related to GAgP. DisGeNET Detail
MMP-2 -735C/T and MMP-12 357Asn/Ser polymorphisms are not related to GAgP. 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
hg38
Position
chr11:102,865,911-102,865,911
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8558
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)
119448
Allele Counts in All Race (ExAC)
30
Heterozygous Counts in All Race (ExAC)
26
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
2.5115531444645366E-4
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