ClinVar

NM_000070.3(CAPN3):c.2380+12del

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42411012 (on Assembly GRCh38)
• Chr15: 42703210 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.2380+12del

HGVS:

• NC_000015.10:g.42411012del
• NG_008660.1:g.67910del
• NM_000070.3:c.2380+12delMANE SELECT
• NM_024344.2:c.2362+12del
• NM_173087.2:c.2104+12del
• NM_173088.2:c.844+12del
• NM_173089.2:c.385+12del
• NM_173090.2:c.385+12del
• LRG_849t1:c.2380+12del
• LRG_849:g.67910del
• NC_000015.9:g.42703210del
• NM_000070.2:c.2380+12del
• NM_000070.2:c.2380+12delA

This HGVS expression did not pass validation

Links:

dbSNP: rs28364538

NCBI 1000 Genomes Browser:

rs28364538

Molecular consequence:

• NM_000070.3:c.2380+12del - intron variant - [Sequence Ontology: SO:0001627]
• NM_024344.2:c.2362+12del - intron variant - [Sequence Ontology: SO:0001627]
• NM_173087.2:c.2104+12del - intron variant - [Sequence Ontology: SO:0001627]
• NM_173088.2:c.844+12del - intron variant - [Sequence Ontology: SO:0001627]
• NM_173089.2:c.385+12del - intron variant - [Sequence Ontology: SO:0001627]
• NM_173090.2:c.385+12del - intron variant - [Sequence Ontology: SO:0001627]