ClinVar

NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter)

Gene:

XIAP:X-linked inhibitor of apoptosis [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq25

Genomic location:

• ChrX: 123900534 (on Assembly GRCh38)
• ChrX: 123034384 (on Assembly GRCh37)

Preferred name:

NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter)

HGVS:

• NC_000023.11:g.123900534C>T
• NG_007264.1:g.45337C>T
• NM_001167.4:c.1141C>TMANE SELECT
• NM_001204401.2:c.1141C>T
• NM_001378590.1:c.1141C>T
• NM_001378591.1:c.1141C>T
• NM_001378592.1:c.1141C>T
• NP_001158.2:p.Arg381Ter
• NP_001158.2:p.Arg381Ter
• NP_001191330.1:p.Arg381Ter
• NP_001365519.1:p.Arg381Ter
• NP_001365520.1:p.Arg381Ter
• NP_001365521.1:p.Arg381Ter
• LRG_19t1:c.1141C>T
• LRG_19:g.45337C>T
• LRG_19p1:p.Arg381Ter
• NC_000023.10:g.123034384C>T
• NM_001167.3:c.1141C>T
• NR_037916.2:n.505C>T
• NR_165803.1:n.487C>T

This HGVS expression did not pass validation

Protein change:

R381*

Links:

dbSNP: rs1556408009

NCBI 1000 Genomes Browser:

rs1556408009

Molecular consequence:

• NR_037916.2:n.505C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165803.1:n.487C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001167.4:c.1141C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001204401.2:c.1141C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001378590.1:c.1141C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001378591.1:c.1141C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001378592.1:c.1141C>T - nonsense - [Sequence Ontology: SO:0001587]