ClinVar

NM_000070.3(CAPN3):c.1715G>C (p.Arg572Pro)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42402972 (on Assembly GRCh38)
• Chr15: 42695170 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.1715G>C (p.Arg572Pro)

HGVS:

• NC_000015.10:g.42402972G>C
• NG_008660.1:g.59870G>C
• NM_000070.3:c.1715G>CMANE SELECT
• NM_024344.2:c.1715G>C
• NM_173087.2:c.1571G>C
• NM_173088.2:c.179G>C
• NP_000061.1:p.Arg572Pro
• NP_077320.1:p.Arg572Pro
• NP_775110.1:p.Arg524Pro
• NP_775111.1:p.Arg60Pro
• LRG_849t1:c.1715G>C
• LRG_849:g.59870G>C
• LRG_849p1:p.Arg572Pro
• NC_000015.9:g.42695170G>C
• NM_000070.2:c.1715G>C

This HGVS expression did not pass validation

Protein change:

R524P

Links:

dbSNP: rs121434544

NCBI 1000 Genomes Browser:

rs121434544

Molecular consequence:

• NM_000070.3:c.1715G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.1715G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.1571G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173088.2:c.179G>C - missense variant - [Sequence Ontology: SO:0001583]