ClinVar

NM_152558.5(IQCE):c.1333C>T (p.Arg445Ter)

Gene:

IQCE:IQ motif containing E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.3

Genomic location:

• Chr7: 2593110 (on Assembly GRCh38)
• Chr7: 2632744 (on Assembly GRCh37)

Preferred name:

NM_152558.5(IQCE):c.1333C>T (p.Arg445Ter)

HGVS:

• NC_000007.14:g.2593110C>T
• NM_001287499.2:c.1333C>T
• NM_001287500.2:c.1285C>T
• NM_001287501.2:c.1138C>T
• NM_001287502.2:c.1138C>T
• NM_152558.5:c.1333C>TMANE SELECT
• NP_001274428.1:p.Arg445Ter
• NP_001274429.1:p.Arg429Ter
• NP_001274430.1:p.Arg380Ter
• NP_001274431.1:p.Arg380Ter
• NP_689771.3:p.Arg445Ter
• NC_000007.13:g.2632744C>T
• NM_152558.3:c.1333C>T

This HGVS expression did not pass validation

Protein change:

R380*

Links:

dbSNP: rs753670589

NCBI 1000 Genomes Browser:

rs753670589

Molecular consequence:

• NM_001287499.2:c.1333C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001287500.2:c.1285C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001287501.2:c.1138C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001287502.2:c.1138C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_152558.5:c.1333C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1