ClinVar

NM_000070.3(CAPN3):c.2058C>G (p.Asp686Glu)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42409938 (on Assembly GRCh38)
• Chr15: 42702136 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.2058C>G (p.Asp686Glu)

HGVS:

• NC_000015.10:g.42409938C>G
• NG_008660.1:g.66836C>G
• NM_000070.3:c.2058C>GMANE SELECT
• NM_024344.2:c.2040C>G
• NM_173087.2:c.1782C>G
• NM_173088.2:c.522C>G
• NM_173089.2:c.63C>G
• NM_173090.2:c.63C>G
• NP_000061.1:p.Asp686Glu
• NP_077320.1:p.Asp680Glu
• NP_775110.1:p.Asp594Glu
• NP_775111.1:p.Asp174Glu
• NP_775112.1:p.Asp21Glu
• NP_775113.1:p.Asp21Glu
• LRG_849t1:c.2058C>G
• LRG_849:g.66836C>G
• LRG_849p1:p.Asp686Glu
• NC_000015.9:g.42702136C>G
• NC_000015.9:g.42702136C>G
• NM_000070.2:c.2058C>G

This HGVS expression did not pass validation

Protein change:

D174E

Links:

dbSNP: rs749614603

NCBI 1000 Genomes Browser:

rs749614603

Molecular consequence:

• NM_000070.3:c.2058C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.2040C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.1782C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173088.2:c.522C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173089.2:c.63C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173090.2:c.63C>G - missense variant - [Sequence Ontology: SO:0001583]