ClinVar

NM_015937.6(PIGT):c.476C>T (p.Pro159Leu)

Gene:

PIGT:phosphatidylinositol glycan anchor biosynthesis class T [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 45418962 (on Assembly GRCh38)
• Chr20: 44047602 (on Assembly GRCh37)

Preferred name:

NM_015937.6(PIGT):c.476C>T (p.Pro159Leu)

HGVS:

• NC_000020.11:g.45418962C>T
• NG_047154.1:g.7896C>T
• NM_001184728.3:c.326-333C>T
• NM_001184729.3:c.476C>T
• NM_001184730.3:c.188-333C>T
• NM_015937.6:c.476C>TMANE SELECT
• NP_001171658.1:p.Pro159Leu
• NP_057021.2:p.Pro159Leu
• NC_000020.10:g.44047602C>T
• NM_015937.5:c.476C>T
• NR_047691.2:n.452C>T
• NR_047693.2:n.492C>T
• NR_047694.2:n.314C>T

This HGVS expression did not pass validation

Protein change:

P159L

Molecular consequence:

• NM_001184728.3:c.326-333C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001184730.3:c.188-333C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001184729.3:c.476C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015937.6:c.476C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_047691.2:n.452C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047693.2:n.492C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047694.2:n.314C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]