ClinVar

NM_000070.3(CAPN3):c.2051-1G>T

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42409930 (on Assembly GRCh38)
• Chr15: 42702128 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.2051-1G>T

Other names:

c.2099-1G>T

HGVS:

• NC_000015.10:g.42409930G>T
• NG_008660.1:g.66828G>T
• NM_000070.3:c.2051-1G>TMANE SELECT
• NM_024344.2:c.2033-1G>T
• NM_173087.2:c.1775-1G>T
• NM_173088.2:c.515-1G>T
• NM_173089.2:c.56-1G>T
• NM_173090.2:c.56-1G>T
• LRG_849t1:c.2051-1G>T
• LRG_849:g.66828G>T
• NC_000015.9:g.42702128G>T
• NM_000070.2:c.2051-1G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs886042108

NCBI 1000 Genomes Browser:

rs886042108

Molecular consequence:

• NM_000070.3:c.2051-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_024344.2:c.2033-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_173087.2:c.1775-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_173088.2:c.515-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_173089.2:c.56-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_173090.2:c.56-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

3