ClinVar

NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)

Gene:

IQCB1:IQ motif containing B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.33

Genomic location:

• Chr3: 121781772 (on Assembly GRCh38)
• Chr3: 121500619 (on Assembly GRCh37)

Preferred name:

NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)

HGVS:

• NC_000003.12:g.121781772G>A
• NG_015887.1:g.58308C>T
• NM_001023570.4:c.1381C>TMANE SELECT
• NM_001023571.4:c.982C>T
• NM_001319107.2:c.1381C>T
• NP_001018864.2:p.Arg461Ter
• NP_001018865.2:p.Arg328Ter
• NP_001306036.1:p.Arg461Ter
• NC_000003.11:g.121500619G>A
• NM_001023570.2:c.1381C>T
• NM_001023570.3:c.1381C>T
• NM_001319107.2:c.1381C>T
• NP_001018864.2:p.Arg461*
• NR_134968.2:n.1466C>T

This HGVS expression did not pass validation

Protein change:

R328*; ARG461TER

Links:

OMIM: 609237.0001; dbSNP: rs121918244

NCBI 1000 Genomes Browser:

rs121918244

Molecular consequence:

• NR_134968.2:n.1466C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001023570.4:c.1381C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001023571.4:c.982C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001319107.2:c.1381C>T - nonsense - [Sequence Ontology: SO:0001587]