chr4:99583507:T>C Detail (hg38) (MTTP)

Information

Genome

Assembly Position
hg19 chr4:100,504,664-100,504,664 View the variant detail on this assembly version.
hg38 chr4:99,583,507-99,583,507

HGVS

Type Transcript Protein
RefSeq NM_000253.3:c.383T>C NP_000244.2:p.Ile128Thr
NM_001300785.1:c.134T>C NP_001287714.1:p.Ile45Thr
Ensemble ENST00000265517.10:c.383T>C ENST00000265517.10:p.Ile128Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.163
ToMMo:0.182
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.141

Prediction

ClinVar

Clinical Significance Benign Likely 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 tgv18023237 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2006-01-01 no assertion criteria provided RECLASSIFIED - MTTP POLYMORPHISM germline Detail
Benign Likely benign 2020-01-05 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2018-03-06 criteria provided, single submitter Abetalipoproteinaemia germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2022-03-11 criteria provided, single submitter Abetalipoproteinaemia,Metabolic syndrome X unknown Detail
Benign 2022-03-11 criteria provided, single submitter Abetalipoproteinaemia,Metabolic syndrome X unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Hyperlipidemia Association of L-FABP T94A and MTP I128T polymorphisms with hyperlipidemia in Ch... BeFree 25663234 Detail
0.083 Hyperlipidemia Association of L-FABP T94A and MTP I128T polymorphisms with hyperlipidemia in Ch... BeFree 25663234 Detail
0.004 Hypobetalipoproteinemias MTP gene sequence revealed that he was a carrier of the I128T polymorphism and a... BeFree 14732481 Detail
<0.001 Impaired glucose tolerance These results suggest that the rare allele of the MTP I128T polymorphism may be ... BeFree 16721486 Detail
0.007 Dyslipidemias Emerging evidence has indicated that the functional MTP exon polymorphism I128T ... BeFree 16721486 Detail
0.005 Metabolic syndrome X Emerging evidence has indicated that the functional MTP exon polymorphism I128T ... BeFree 16721486 Detail
<0.001 Fatty Liver, Alcoholic In this study, MTTP-I128T polymorphism is associated with central obesity, eleva... BeFree 19262398 Detail
<0.001 Insulin resistance syndrome Emerging evidence has indicated that the functional MTP exon polymorphism I128T ... BeFree 16721486 Detail
<0.001 Obesity, Abdominal In this study, MTTP-I128T polymorphism is associated with central obesity, eleva... BeFree 19262398 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) AND RECLASSIFIED - MTTP POLYMORPHISM ClinVar Detail
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) AND not specified ClinVar Detail
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) AND Abetalipoproteinaemia ClinVar Detail
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) AND not provided ClinVar Detail
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) AND multiple conditions ClinVar Detail
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) AND multiple conditions ClinVar Detail
Association of L-FABP T94A and MTP I128T polymorphisms with hyperlipidemia in Chinese subjects. DisGeNET Detail
Association of L-FABP T94A and MTP I128T polymorphisms with hyperlipidemia in Chinese subjects. DisGeNET Detail
MTP gene sequence revealed that he was a carrier of the I128T polymorphism and an unreported amino a... DisGeNET Detail
These results suggest that the rare allele of the MTP I128T polymorphism may be protective against i... DisGeNET Detail
Emerging evidence has indicated that the functional MTP exon polymorphism I128T is associated with d... DisGeNET Detail
Emerging evidence has indicated that the functional MTP exon polymorphism I128T is associated with d... DisGeNET Detail
In this study, MTTP-I128T polymorphism is associated with central obesity, elevated liver enzymes, a... DisGeNET Detail
Emerging evidence has indicated that the functional MTP exon polymorphism I128T is associated with d... DisGeNET Detail
In this study, MTTP-I128T polymorphism is associated with central obesity, elevated liver enzymes, a... 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
-
dbSNP
rs3816873 dbSNP
Genome
hg38
Position
chr4:99,583,507-99,583,507
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
104.10
Standard deviation of sample read depth (HGVD)
47.24
Number of reference allele (HGVD)
2021
Number of alternative allele (HGVD)
395
Allele Frequency (HGVD)
0.1634933774834437
Gene Symbol (HGVD)
MTTP
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))
rs3816873
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))
3044
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8584
East Asian Allele Counts (ExAC)
1207
East Asian Heterozygous Counts (ExAC)
1019
East Asian Homozygous Counts (ExAC)
94
East Asian Allele Frequency (ExAC)
0.14061043802423112
Chromosome Counts in All Race (ExAC)
119734
Allele Counts in All Race (ExAC)
29986
Heterozygous Counts in All Race (ExAC)
21810
Homozygous Counts in All Race (ExAC)
4088
Allele Frequency in All Race (ExAC)
0.25043847194614727
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