ClinVar

NM_145269.5(CIBAR1):c.478C>T (p.Arg160Ter)

Gene:

CIBAR1:CBY1 interacting BAR domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

• Chr8: 93709810 (on Assembly GRCh38)
• Chr8: 94722038 (on Assembly GRCh37)

Preferred name:

NM_145269.5(CIBAR1):c.478C>T (p.Arg160Ter)

Other names:

CIBAR1, ARG160TER (rs368652620)

HGVS:

• NC_000008.11:g.93709810C>T
• NM_001283034.2:c.478C>T
• NM_145269.5:c.478C>TMANE SELECT
• NP_001269963.1:p.Arg160Ter
• NP_660312.2:p.Arg160Ter
• NC_000008.10:g.94722038C>T
• NM_001283034.1:c.478C>T
• NR_104267.2:n.576C>T
• NR_104268.2:n.576C>T
• NR_156451.2:n.838C>T
• NR_156452.2:n.760C>T
• NR_156453.2:n.650C>T

This HGVS expression did not pass validation

Protein change:

R160*; ARG160TER

Links:

OMIM: 617273.0001; dbSNP: rs368652620

NCBI 1000 Genomes Browser:

rs368652620

Molecular consequence:

• NR_104267.2:n.576C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104268.2:n.576C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_156451.2:n.838C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_156452.2:n.760C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_156453.2:n.650C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001283034.2:c.478C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_145269.5:c.478C>T - nonsense - [Sequence Ontology: SO:0001587]