ClinVar

NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42409972 (on Assembly GRCh38)
• Chr15: 42702170 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)

HGVS:

• NC_000015.10:g.42409972C>T
• NG_008660.1:g.66870C>T
• NM_000070.3:c.2092C>TMANE SELECT
• NM_024344.2:c.2074C>T
• NM_173087.2:c.1816C>T
• NM_173088.2:c.556C>T
• NM_173089.2:c.97C>T
• NM_173090.2:c.97C>T
• NP_000061.1:p.Arg698Cys
• NP_077320.1:p.Arg692Cys
• NP_775110.1:p.Arg606Cys
• NP_775111.1:p.Arg186Cys
• NP_775112.1:p.Arg33Cys
• NP_775113.1:p.Arg33Cys
• LRG_849t1:c.2092C>T
• LRG_849:g.66870C>T
• LRG_849p1:p.Arg698Cys
• NC_000015.9:g.42702170C>T
• NM_000070.2:c.2092C>T
• p.Arg698Cys

This HGVS expression did not pass validation

Protein change:

R186C

Links:

dbSNP: rs764370512

NCBI 1000 Genomes Browser:

rs764370512

Molecular consequence:

• NM_000070.3:c.2092C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.2074C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.1816C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173088.2:c.556C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173089.2:c.97C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173090.2:c.97C>T - missense variant - [Sequence Ontology: SO:0001583]