ClinVar

NM_001386140.1(MTTP):c.1304T>A (p.Leu435His)

Gene:

MTTP:microsomal triglyceride transfer protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q23

Genomic location:

• Chr4: 99601674 (on Assembly GRCh38)
• Chr4: 100522831 (on Assembly GRCh37)

Preferred name:

NM_001386140.1(MTTP):c.1304T>A (p.Leu435His)

HGVS:

• NC_000004.12:g.99601674T>A
• NG_011469.1:g.42592T>A
• NM_000253.4:c.1304T>A
• NM_001300785.2:c.1055T>A
• NM_001386140.1:c.1304T>AMANE SELECT
• NP_000244.2:p.Leu435His
• NP_000244.2:p.Leu435His
• NP_001287714.2:p.Leu352His
• NP_001373069.1:p.Leu435His
• NC_000004.11:g.100522831T>A
• NM_000253.3:c.1304T>A

This HGVS expression did not pass validation

Protein change:

L352H

Links:

dbSNP: rs1560621495

NCBI 1000 Genomes Browser:

rs1560621495

Molecular consequence:

• NM_000253.4:c.1304T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001300785.2:c.1055T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386140.1:c.1304T>A - missense variant - [Sequence Ontology: SO:0001583]