ClinVar

NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42389020 (on Assembly GRCh38)
• Chr15: 42681218 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys)

HGVS:

• NC_000015.10:g.42389020G>A
• NG_008660.1:g.45918G>A
• NM_000070.3:c.725G>AMANE SELECT
• NM_024344.2:c.725G>A
• NM_173087.2:c.725G>A
• NP_000061.1:p.Arg242Lys
• NP_077320.1:p.Arg242Lys
• NP_775110.1:p.Arg242Lys
• LRG_849t1:c.725G>A
• LRG_849:g.45918G>A
• LRG_849p1:p.Arg242Lys
• NC_000015.9:g.42681218G>A
• NM_000070.2:c.725G>A

This HGVS expression did not pass validation

Protein change:

R242K

Links:

dbSNP: rs146253209

NCBI 1000 Genomes Browser:

rs146253209

Molecular consequence:

• NM_000070.3:c.725G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.725G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.725G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2