chr7:73606007:C>G Detail (hg38) (MLXIPL)

Information

Genome

Assembly Position
hg19 chr7:73,020,337-73,020,337 View the variant detail on this assembly version.
hg38 chr7:73,606,007-73,606,007

HGVS

Type Transcript Protein
RefSeq NM_032951.2:c.723G>C NP_116569.1:p.Gln241His
NM_032953.2:c.723G>C NP_116571.1:p.Gln241His
NM_032952.2:c.723G>C NP_116570.1:p.Gln241His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.091
ToMMo:0.097
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.120

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 605678 OMIM
HGNC 12744 HGNC
Ensembl ENSG00000009950 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv29699161 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
0.004 obesity Here, we evaluated the association of two variants (rs12970134 and rs4450508) ne... BeFree 19680233 Detail
0.029 Diabetes Mellitus, Non-Insulin-Dependent Here, we evaluated the association of two variants (rs12970134 and rs4450508) ne... BeFree 19680233 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent Here, we evaluated the association of two variants (rs12970134 and rs4450508) ne... BeFree 19680233 Detail
<0.001 Hyperlipidemia, Familial Combined Variants more frequently identified in isolated hypertriglyceridemias were rs741... BeFree 25176936 Detail
<0.001 Hyperlipidemia, Familial Combined Variants more frequently identified in isolated hypertriglyceridemias were rs741... BeFree 25176936 Detail
0.015 Hyperlipidemia, Familial Combined Variants more frequently identified in isolated hypertriglyceridemias were rs741... BeFree 25176936 Detail
0.003 Cerebrovascular accident Because affected lipid metabolism can confer risk to the development of ischaemi... BeFree 20158509 Detail
<0.001 Hyperlipidemia, Familial Combined Variants more frequently identified in isolated hypertriglyceridemias were rs741... BeFree 25176936 Detail
Annotation

Annotations

DescrptionSourceLinks
Here, we evaluated the association of two variants (rs12970134 and rs4450508) near MC4R and a nonsyn... DisGeNET Detail
Here, we evaluated the association of two variants (rs12970134 and rs4450508) near MC4R and a nonsyn... DisGeNET Detail
Here, we evaluated the association of two variants (rs12970134 and rs4450508) near MC4R and a nonsyn... DisGeNET Detail
Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... DisGeNET Detail
Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... DisGeNET Detail
Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... DisGeNET Detail
Because affected lipid metabolism can confer risk to the development of ischaemic stroke, we studied... DisGeNET Detail
Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... 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
chr7:73,606,007-73,606,007
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1183
Mean of sample read depth (HGVD)
42.47
Standard deviation of sample read depth (HGVD)
21.33
Number of reference allele (HGVD)
2150
Number of alternative allele (HGVD)
216
Allele Frequency (HGVD)
0.09129332206255283
Gene Symbol (HGVD)
MLXIPL
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))
rs3812316
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0969
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1624
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
3958
East Asian Allele Counts (ExAC)
474
East Asian Heterozygous Counts (ExAC)
428
East Asian Homozygous Counts (ExAC)
23
East Asian Allele Frequency (ExAC)
0.11975745325922182
Chromosome Counts in All Race (ExAC)
50948
Allele Counts in All Race (ExAC)
6890
Heterozygous Counts in All Race (ExAC)
6186
Homozygous Counts in All Race (ExAC)
352
Allele Frequency in All Race (ExAC)
0.1352359268273534
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