ClinVar

NM_002641.4(PIGA):c.273C>T (p.Tyr91=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 15331658 (on Assembly GRCh38)
• ChrX: 15349780 (on Assembly GRCh37)

Preferred name:

NM_002641.4(PIGA):c.273C>T (p.Tyr91=)

HGVS:

• NC_000023.11:g.15331658G>A
• NG_009786.1:g.8881C>T
• NM_002641.4:c.273C>TMANE SELECT
• NM_020473.3:c.13+3843C>T
• NP_002632.1:p.Tyr91=
• NP_002632.1:p.Tyr91=
• LRG_160t1:c.273C>T
• LRG_160:g.8881C>T
• LRG_160p1:p.Tyr91=
• NC_000023.10:g.15349780G>A
• NM_002641.3:c.273C>T
• NR_033835.1:n.389C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs61730284

NCBI 1000 Genomes Browser:

rs61730284

Molecular consequence:

• NM_020473.3:c.13+3843C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_033835.1:n.389C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_002641.4:c.273C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1