ClinVar

NM_002641.4(PIGA):c.*7G>T

Gene:

PIGA:phosphatidylinositol glycan anchor biosynthesis class A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 15321499 (on Assembly GRCh38)
• ChrX: 15339621 (on Assembly GRCh37)

Preferred name:

NM_002641.4(PIGA):c.*7G>T

HGVS:

• NC_000023.11:g.15321499C>A
• NG_009786.1:g.19040G>T
• NM_002641.4:c.*7G>TMANE SELECT
• NM_020473.3:c.*7G>T
• LRG_160t1:c.*7G>T
• LRG_160:g.19040G>T
• NC_000023.10:g.15339621C>A
• NM_002641.3:c.*7G>T
• NR_033835.1:n.1204G>T
• NR_033836.1:n.920G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs142178534

NCBI 1000 Genomes Browser:

rs142178534

Molecular consequence:

• NM_002641.4:c.*7G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_020473.3:c.*7G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_033835.1:n.1204G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_033836.1:n.920G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]