ClinVar

NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42389044 (on Assembly GRCh38)
• Chr15: 42681242 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg)

HGVS:

• NC_000015.10:g.42389044A>G
• NG_008660.1:g.45942A>G
• NM_000070.3:c.749A>GMANE SELECT
• NM_024344.2:c.749A>G
• NM_173087.2:c.749A>G
• NP_000061.1:p.Lys250Arg
• NP_077320.1:p.Lys250Arg
• NP_775110.1:p.Lys250Arg
• LRG_849t1:c.749A>G
• LRG_849:g.45942A>G
• LRG_849p1:p.Lys250Arg
• NC_000015.9:g.42681242A>G
• NM_000070.2:c.749A>G

This HGVS expression did not pass validation

Protein change:

K250R

Links:

dbSNP: rs779939785

NCBI 1000 Genomes Browser:

rs779939785

Molecular consequence:

• NM_000070.3:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1