ClinVar

NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)

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>T (p.Arg572Trp)

HGVS:

• NC_000015.10:g.42402971C>T
• NG_008660.1:g.59869C>T
• NM_000070.3:c.1714C>TMANE SELECT
• NM_024344.2:c.1714C>T
• NM_173087.2:c.1570C>T
• NM_173088.2:c.178C>T
• NP_000061.1:p.Arg572Trp
• NP_077320.1:p.Arg572Trp
• NP_775110.1:p.Arg524Trp
• NP_775111.1:p.Arg60Trp
• LRG_849t1:c.1714C>T
• LRG_849:g.59869C>T
• LRG_849p1:p.Arg572Trp
• NC_000015.9:g.42695169C>T
• NM_000070.2:c.1714C>T
• P20807:p.Arg572Trp

This HGVS expression did not pass validation

Protein change:

R524W

Links:

UniProtKB: P20807#VAR_009590; dbSNP: rs863224959

NCBI 1000 Genomes Browser:

rs863224959

Molecular consequence:

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