ClinVar

NM_000070.3(CAPN3):c.1714C>G (p.Arg572Gly)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42402971 (on Assembly GRCh38)
• Chr15: 42695169 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.1714C>G (p.Arg572Gly)

HGVS:

• NC_000015.10:g.42402971C>G
• NG_008660.1:g.59869C>G
• NM_000070.3:c.1714C>GMANE SELECT
• NM_024344.2:c.1714C>G
• NM_173087.2:c.1570C>G
• NM_173088.2:c.178C>G
• NP_000061.1:p.Arg572Gly
• NP_077320.1:p.Arg572Gly
• NP_775110.1:p.Arg524Gly
• NP_775111.1:p.Arg60Gly
• LRG_849t1:c.1714C>G
• LRG_849:g.59869C>G
• LRG_849p1:p.Arg572Gly
• NC_000015.9:g.42695169C>G

This HGVS expression did not pass validation

Protein change:

R524G

Links:

dbSNP: rs863224959

NCBI 1000 Genomes Browser:

rs863224959

Molecular consequence:

• NM_000070.3:c.1714C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.1714C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.1570C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173088.2:c.178C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1