ClinVar

NM_000070.3(CAPN3):c.1516A>C (p.Ile506Leu)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42401802 (on Assembly GRCh38)
• Chr15: 42694000 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.1516A>C (p.Ile506Leu)

HGVS:

• NC_000015.10:g.42401802A>C
• NG_008660.1:g.58700A>C
• NM_000070.3:c.1516A>CMANE SELECT
• NM_024344.2:c.1516A>C
• NM_173087.2:c.1372A>C
• NP_000061.1:p.Ile506Leu
• NP_077320.1:p.Ile506Leu
• NP_775110.1:p.Ile458Leu
• LRG_849t1:c.1516A>C
• LRG_849:g.58700A>C
• LRG_849p1:p.Ile506Leu
• NC_000015.9:g.42694000A>C
• NM_000070.2:c.1516A>C

This HGVS expression did not pass validation

Protein change:

I458L

Links:

dbSNP: rs140828326

NCBI 1000 Genomes Browser:

rs140828326

Molecular consequence:

• NM_000070.3:c.1516A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.1516A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.1372A>C - missense variant - [Sequence Ontology: SO:0001583]