ClinVar

NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter)

Genes:

LINC01054:long intergenic non-protein coding RNA 1054 [Gene - HGNC]
CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

• Chr13: 114325331 (on Assembly GRCh38)
• Chr13: 115090806 (on Assembly GRCh37)

Preferred name:

NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter)

HGVS:

• NC_000013.11:g.114325331C>T
• NG_051829.1:g.15997C>T
• NM_001164144.3:c.1489C>T
• NM_001164145.3:c.1489C>T
• NM_032436.4:c.1489C>TMANE SELECT
• NP_001157616.1:p.Arg497Ter
• NP_001157617.1:p.Arg497Ter
• NP_115812.1:p.Arg497Ter
• NC_000013.10:g.115090806C>T
• NM_001164144.1:c.1489C>T
• NM_032436.2:c.1489C>T

This HGVS expression did not pass validation

Protein change:

R497*; ARG497TER

Links:

OMIM: 616327.0002; dbSNP: rs782397980

NCBI 1000 Genomes Browser:

rs782397980

Molecular consequence:

• NM_001164144.3:c.1489C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001164145.3:c.1489C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_032436.4:c.1489C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1