ClinVar

NM_001167.4(XIAP):c.844G>A (p.Glu282Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq25

Genomic location:

• ChrX: 123886506 (on Assembly GRCh38)
• ChrX: 123020356 (on Assembly GRCh37)

Preferred name:

NM_001167.4(XIAP):c.844G>A (p.Glu282Lys)

HGVS:

• NC_000023.11:g.123886506G>A
• NG_007264.1:g.31309G>A
• NM_001167.4:c.844G>AMANE SELECT
• NM_001204401.2:c.844G>A
• NM_001378590.1:c.844G>A
• NM_001378591.1:c.844G>A
• NM_001378592.1:c.844G>A
• NP_001158.2:p.Glu282Lys
• NP_001158.2:p.Glu282Lys
• NP_001191330.1:p.Glu282Lys
• NP_001365519.1:p.Glu282Lys
• NP_001365520.1:p.Glu282Lys
• NP_001365521.1:p.Glu282Lys
• LRG_19t1:c.844G>A
• LRG_19:g.31309G>A
• LRG_19p1:p.Glu282Lys
• NC_000023.10:g.123020356G>A
• NM_001167.3:c.844G>A

This HGVS expression did not pass validation

Protein change:

E282K

Links:

dbSNP: rs777303823

NCBI 1000 Genomes Browser:

rs777303823

Molecular consequence:

• NM_001167.4:c.844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204401.2:c.844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378590.1:c.844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378591.1:c.844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378592.1:c.844G>A - missense variant - [Sequence Ontology: SO:0001583]