ClinVar

NM_032436.4(CHAMP1):c.796G>A (p.Glu266Lys)

Gene:

CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

• Chr13: 114324638 (on Assembly GRCh38)
• Chr13: 115090113 (on Assembly GRCh37)

Preferred name:

NM_032436.4(CHAMP1):c.796G>A (p.Glu266Lys)

HGVS:

• NC_000013.11:g.114324638G>A
• NG_051829.1:g.15304G>A
• NM_001164144.3:c.796G>A
• NM_001164145.2:c.796G>A
• NM_001164145.3:c.796G>A
• NM_032436.4:c.796G>AMANE SELECT
• NP_001157616.1:p.Glu266Lys
• NP_001157617.1:p.Glu266Lys
• NP_115812.1:p.Glu266Lys
• NC_000013.10:g.115090113G>A

This HGVS expression did not pass validation

Protein change:

E266K

Links:

dbSNP: rs782551982

NCBI 1000 Genomes Browser:

rs782551982

Molecular consequence:

• NM_001164144.3:c.796G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164145.3:c.796G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032436.4:c.796G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1