ClinVar

NM_145200.5(CABP4):c.673C>T (p.Arg225Ter)

Gene:

CABP4:calcium binding protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67458392 (on Assembly GRCh38)
• Chr11: 67225863 (on Assembly GRCh37)

Preferred name:

NM_145200.5(CABP4):c.673C>T (p.Arg225Ter)

HGVS:

• NC_000011.10:g.67458392C>T
• NG_021211.1:g.8046C>T
• NM_001300895.3:c.358C>T
• NM_001300896.3:c.358C>T
• NM_001379183.1:c.358C>T
• NM_145200.5:c.673C>TMANE SELECT
• NP_001287824.1:p.Arg120Ter
• NP_001287825.1:p.Arg120Ter
• NP_001366112.1:p.Arg120Ter
• NP_660201.1:p.Arg225Ter
• NC_000011.9:g.67225863C>T
• NM_145200.2:c.673C>T
• NM_145200.3:c.673C>T
• NR_166529.1:n.568C>T

This HGVS expression did not pass validation

Protein change:

R120*

Links:

dbSNP: rs531851447

NCBI 1000 Genomes Browser:

rs531851447

Molecular consequence:

• NR_166529.1:n.568C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001300895.3:c.358C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001300896.3:c.358C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001379183.1:c.358C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_145200.5:c.673C>T - nonsense - [Sequence Ontology: SO:0001587]