ClinVar

NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42359851 (on Assembly GRCh38)
• Chr15: 42652049 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys)

HGVS:

• NC_000015.10:g.42359851G>A
• NG_008660.1:g.16749G>A
• NM_000070.3:c.46G>AMANE SELECT
• NM_024344.2:c.46G>A
• NM_173087.2:c.46G>A
• NP_000061.1:p.Glu16Lys
• NP_077320.1:p.Glu16Lys
• NP_775110.1:p.Glu16Lys
• LRG_849t1:c.46G>A
• LRG_849:g.16749G>A
• LRG_849p1:p.Glu16Lys
• NC_000015.9:g.42652049G>A
• NM_000070.2:c.46G>A

This HGVS expression did not pass validation

Protein change:

E16K

Links:

dbSNP: rs772580081

NCBI 1000 Genomes Browser:

rs772580081

Molecular consequence:

• NM_000070.3:c.46G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.46G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.46G>A - missense variant - [Sequence Ontology: SO:0001583]