ClinVar

NM_001332.4(CTNND2):c.656CGC[9] (p.Pro226dup)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

5p15.2

Genomic location:

• Chr5: 11385162 - 11385163 (on Assembly GRCh38)
• Chr5: 11385274 - 11385275 (on Assembly GRCh37)

Preferred name:

NM_001332.4(CTNND2):c.656CGC[9] (p.Pro226dup)

HGVS:

• NC_000005.10:g.11385163GCG[9]
• NG_023544.2:g.523813CGC[9]
• NM_001288715.1:c.383CGC[9]
• NM_001288716.1:c.167-20296CGC[9]
• NM_001288717.2:c.-123+11845CGC[9]
• NM_001332.3:c.677_679dupCGC
• NM_001332.4:c.656CGC[9]MANE SELECT
• NM_001364128.2:c.167-20296CGC[9]
• NP_001275644.1:p.Pro135dup
• NP_001323.1:p.Pro226dup
• NC_000005.9:g.11385275GCG[9]
• NM_001332.2:c.677_679dup
• NM_001332.2:c.677_679dupCGC

This HGVS expression did not pass validation

Links:

dbSNP: rs557341981

NCBI 1000 Genomes Browser:

rs557341981

Molecular consequence:

• NM_001288715.1:c.383CGC[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_001332.4:c.656CGC[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_001288716.1:c.167-20296CGC[9] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288717.2:c.-123+11845CGC[9] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001364128.2:c.167-20296CGC[9] - intron variant - [Sequence Ontology: SO:0001627]

Observations:

4