chr4:100495488:G>T Detail (hg19) (MTTP)

Information

Genome

Assembly Position
hg19 chr4:100,495,488-100,495,488
hg38 chr4:99,574,331-99,574,331 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000253.3:c.-101-478G>T
NM_001300785.1:c.-188-7574G>T
Ensemble ENST00000457717.6:c.-101-478G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.182
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 157147 OMIM
HGNC 7467 HGNC
Ensembl ENSG00000138823 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv18022945 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-22 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Non-alcoholic Fatty Liver Disease In this meta-analysis, we evaluated the relationships between a common polymorph... BeFree 25501226 Detail
<0.001 Non-alcoholic Fatty Liver Disease Many existing studies have demonstrated that a common polymorphism (-493G&gt;T, ... BeFree 24588800 Detail
<0.001 Hashimoto Disease We analyzed the associations of seven polymorphisms of genes involved in lipid m... BeFree 25587205 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000253.4(MTTP):c.-101-478G>T AND not provided ClinVar Detail
In this meta-analysis, we evaluated the relationships between a common polymorphism (-493G&gt;T, rs1... DisGeNET Detail
Many existing studies have demonstrated that a common polymorphism (-493G&gt;T, rs1800591 G&gt;T) in... DisGeNET Detail
We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1800591 dbSNP
Genome
hg19
Position
chr4:100,495,488-100,495,488
Variant Type
snv
Reference Allele
G
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1800591
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1816
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3043
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser