ClinVar

NM_000070.3(CAPN3):c.633-138C>T

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42388790 (on Assembly GRCh38)
• Chr15: 42680988 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.633-138C>T

HGVS:

• NC_000015.10:g.42388790C>T
• NG_008660.1:g.45688C>T
• NM_000070.3:c.633-138C>TMANE SELECT
• NM_024344.2:c.633-138C>T
• NM_173087.2:c.633-138C>T
• LRG_849t1:c.633-138C>T
• LRG_849:g.45688C>T
• NC_000015.9:g.42680988C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs28364417

NCBI 1000 Genomes Browser:

rs28364417

Molecular consequence:

• NM_000070.3:c.633-138C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_024344.2:c.633-138C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_173087.2:c.633-138C>T - intron variant - [Sequence Ontology: SO:0001627]