ClinVar

NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42409973 (on Assembly GRCh38)
• Chr15: 42702171 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)

HGVS:

• NC_000015.10:g.42409973G>A
• NG_008660.1:g.66871G>A
• NM_000070.3:c.2093G>AMANE SELECT
• NM_024344.2:c.2075G>A
• NM_173087.2:c.1817G>A
• NM_173088.2:c.557G>A
• NM_173089.2:c.98G>A
• NM_173090.2:c.98G>A
• NP_000061.1:p.Arg698His
• NP_077320.1:p.Arg692His
• NP_775110.1:p.Arg606His
• NP_775111.1:p.Arg186His
• NP_775112.1:p.Arg33His
• NP_775113.1:p.Arg33His
• LRG_849t1:c.2093G>A
• LRG_849:g.66871G>A
• LRG_849p1:p.Arg698His
• NC_000015.9:g.42702171G>A
• NM_000070.2:c.2093G>A

This HGVS expression did not pass validation

Protein change:

R186H

Links:

dbSNP: rs190793093

NCBI 1000 Genomes Browser:

rs190793093

Molecular consequence:

• NM_000070.3:c.2093G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.2075G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_173088.2:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_173089.2:c.98G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_173090.2:c.98G>A - missense variant - [Sequence Ontology: SO:0001583]