ClinVar

NM_000070.3(CAPN3):c.2071G>C (p.Gly691Arg)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42409951 (on Assembly GRCh38)
• Chr15: 42702149 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.2071G>C (p.Gly691Arg)

HGVS:

• NC_000015.10:g.42409951G>C
• NG_008660.1:g.66849G>C
• NM_000070.3:c.2071G>CMANE SELECT
• NM_024344.2:c.2053G>C
• NM_173087.2:c.1795G>C
• NM_173088.2:c.535G>C
• NM_173089.2:c.76G>C
• NM_173090.2:c.76G>C
• NP_000061.1:p.Gly691Arg
• NP_077320.1:p.Gly685Arg
• NP_775110.1:p.Gly599Arg
• NP_775111.1:p.Gly179Arg
• NP_775112.1:p.Gly26Arg
• NP_775113.1:p.Gly26Arg
• LRG_849t1:c.2071G>C
• LRG_849:g.66849G>C
• LRG_849p1:p.Gly691Arg
• NC_000015.9:g.42702149G>C

This HGVS expression did not pass validation

Protein change:

G179R

Links:

dbSNP: rs140425651

NCBI 1000 Genomes Browser:

rs140425651

Molecular consequence:

• NM_000070.3:c.2071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.2053G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.1795G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173088.2:c.535G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173089.2:c.76G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173090.2:c.76G>C - missense variant - [Sequence Ontology: SO:0001583]