ClinVar

NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42402878 (on Assembly GRCh38)
• Chr15: 42695076 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly)

HGVS:

• NC_000015.10:g.42402878C>G
• NG_008660.1:g.59776C>G
• NM_000070.3:c.1621C>GMANE SELECT
• NM_024344.2:c.1621C>G
• NM_173087.2:c.1477C>G
• NM_173088.2:c.85C>G
• NP_000061.1:p.Arg541Gly
• NP_077320.1:p.Arg541Gly
• NP_775110.1:p.Arg493Gly
• NP_775111.1:p.Arg29Gly
• LRG_849t1:c.1621C>G
• LRG_849:g.59776C>G
• LRG_849p1:p.Arg541Gly
• NC_000015.9:g.42695076C>G
• NM_000070.2:c.1621C>G

This HGVS expression did not pass validation

Protein change:

R29G

Links:

dbSNP: rs142004418

NCBI 1000 Genomes Browser:

rs142004418

Molecular consequence:

• NM_000070.3:c.1621C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.1621C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.1477C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173088.2:c.85C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2