ClinVar

NM_001904.4(CTNNB1):c.876_882del (p.Phe293fs)

Gene:

CTNNB1:catenin beta 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p22.1

Genomic location:

• Chr3: 41225801 - 41225807 (on Assembly GRCh38)
• Chr3: 41267292 - 41267298 (on Assembly GRCh37)

Preferred name:

NM_001904.4(CTNNB1):c.876_882del (p.Phe293fs)

HGVS:

• NC_000003.12:g.41225801_41225807del
• NG_013302.2:g.31351_31357del
• NM_001098209.2:c.876_882del
• NM_001098210.2:c.876_882del
• NM_001330729.2:c.855_861del
• NM_001904.4:c.876_882delMANE SELECT
• NP_001091679.1:p.Phe293fs
• NP_001091680.1:p.Phe293fs
• NP_001317658.1:p.Phe286fs
• NP_001895.1:p.Phe293fs
• LRG_1108t1:c.876_882del
• LRG_1108:g.31351_31357del
• LRG_1108p1:p.Phe293fs
• NC_000003.11:g.41267292_41267298del

This HGVS expression did not pass validation

Protein change:

F286fs

Links:

dbSNP: rs2078161525

NCBI 1000 Genomes Browser:

rs2078161525

Molecular consequence:

• NM_001098209.2:c.876_882del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001098210.2:c.876_882del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001330729.2:c.855_861del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001904.4:c.876_882del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

2