ClinVar

NM_006227.4(PLTP):c.395C>T (p.Ser132Phe)

Gene:

PLTP:phospholipid transfer protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 45909606 (on Assembly GRCh38)
• Chr20: 44538245 (on Assembly GRCh37)

Preferred name:

NM_006227.4(PLTP):c.395C>T (p.Ser132Phe)

HGVS:

• NC_000020.11:g.45909606G>A
• NG_012115.2:g.7542C>T
• NM_001242920.2:c.200+1546C>T
• NM_001242921.1:c.131C>T
• NM_006227.4:c.395C>TMANE SELECT
• NM_182676.3:c.329+336C>T
• NP_001229850.1:p.Ser44Phe
• NP_006218.1:p.Ser132Phe
• NC_000020.10:g.44538245G>A
• NM_006227.3:c.395C>T

This HGVS expression did not pass validation

Protein change:

S132F

Molecular consequence:

• NM_001242920.2:c.200+1546C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_182676.3:c.329+336C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001242921.1:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006227.4:c.395C>T - missense variant - [Sequence Ontology: SO:0001583]