ClinVar

NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)

Genes:

LOC126806659:BRD4-independent group 4 enhancer GRCh37_chr3:41274918-41276117 [Gene]
CTNNB1:catenin beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.1

Genomic location:

• Chr3: 41233763 (on Assembly GRCh38)
• Chr3: 41275254 (on Assembly GRCh37)

Preferred name:

NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)

HGVS:

• NC_000003.12:g.41233763C>T
• NG_013302.2:g.39313C>T
• NM_001098209.2:c.1420C>T
• NM_001098210.2:c.1420C>T
• NM_001330729.2:c.1399C>T
• NM_001904.4:c.1420C>TMANE SELECT
• NP_001091679.1:p.Arg474Ter
• NP_001091680.1:p.Arg474Ter
• NP_001317658.1:p.Arg467Ter
• NP_001895.1:p.Arg474Ter
• LRG_1108t1:c.1420C>T
• LRG_1108:g.39313C>T
• LRG_1108p1:p.Arg474Ter
• NC_000003.11:g.41275254C>T
• NM_001098210.1:c.1420C>T
• NM_001904.3:c.1420C>T

This HGVS expression did not pass validation

Protein change:

R467*

Links:

dbSNP: rs1553631860

NCBI 1000 Genomes Browser:

rs1553631860

Molecular consequence:

• NM_001098209.2:c.1420C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001098210.2:c.1420C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001330729.2:c.1399C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001904.4:c.1420C>T - nonsense - [Sequence Ontology: SO:0001587]