ClinVar

NM_006227.4(PLTP):c.288C>T (p.Ser96=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 45909983 (on Assembly GRCh38)
• Chr20: 44538622 (on Assembly GRCh37)

Preferred name:

NM_006227.4(PLTP):c.288C>T (p.Ser96=)

HGVS:

• NC_000020.11:g.45909983G>A
• NG_012115.2:g.7165C>T
• NM_001242920.2:c.200+1169C>T
• NM_001242921.1:c.24C>T
• NM_006227.4:c.288C>TMANE SELECT
• NM_182676.3:c.288C>T
• NP_001229850.1:p.Ser8=
• NP_006218.1:p.Ser96=
• NP_872617.1:p.Ser96=
• NC_000020.10:g.44538622G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001242920.2:c.200+1169C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001242921.1:c.24C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006227.4:c.288C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_182676.3:c.288C>T - synonymous variant - [Sequence Ontology: SO:0001819]