{{Rsnum
|rsid=3792683
|Gene=MTTP
|Chromosome=4
|position=99589746
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.123
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MTTP
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 98.5 | 1.5 | 0.0
| HCB | 51.1 | 42.2 | 6.7
| JPT | 59.1 | 38.6 | 2.3
| YRI | 65.1 | 28.6 | 6.3
| ASW | 0.0 | 0.0 | 0.0
| CHB | 51.1 | 42.2 | 6.7
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=3792683
|allele=G
|frequency=0.008
|uid=1103654496884
|type=heterozygous_SNP
|hugo=MTTP
|ensembl gene=ENSG00000138823
|ensembl transcript=ENST00000265517
|sift=TOLERATED
|disease=Defects in MTTP are the cause of abetalipoproteinemia (ABL) (MIM:200100). ABL is an autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration.
}}

{{GET Evidence
|gene=MTTP
|aa_change=Asn166Ser
|aa_change_short=N166S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3792683
|overall_frequency_n=922
|overall_frequency_d=10758
|overall_frequency=0.0857037
|n_genomes=15
|n_genomes_annotated=0
|n_haplomes=18
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.153
|nblosum100=0
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}