ClinVar

NM_001332.4(CTNND2):c.735CGC[5] (p.Ala251del)

Gene:

CTNND2:catenin delta 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

5p15.2

Genomic location:

• Chr5: 11385090 - 11385092 (on Assembly GRCh38)
• Chr5: 11385202 - 11385204 (on Assembly GRCh37)

Preferred name:

NM_001332.4(CTNND2):c.735CGC[5] (p.Ala251del)

HGVS:

• NC_000005.10:g.11385091CGG[5]
• NG_023544.2:g.523892CGC[5]
• NM_001288715.1:c.462CGC[5]
• NM_001288716.1:c.167-20217CGC[5]
• NM_001288717.2:c.-123+11924CGC[5]
• NM_001332.4:c.735CGC[5]MANE SELECT
• NM_001364128.2:c.167-20217CGC[5]
• NP_001275644.1:p.Ala160del
• NP_001323.1:p.Ala251del
• NC_000005.9:g.11385203CGG[5]
• NM_001332.2:c.750_752del

This HGVS expression did not pass validation

Protein change:

A160del

Links:

dbSNP: rs578098885

NCBI 1000 Genomes Browser:

rs578098885

Molecular consequence:

• NM_001288715.1:c.462CGC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_001332.4:c.735CGC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_001288716.1:c.167-20217CGC[5] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288717.2:c.-123+11924CGC[5] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001364128.2:c.167-20217CGC[5] - intron variant - [Sequence Ontology: SO:0001627]