ClinVar

NM_000070.3(CAPN3):c.2061G>A (p.Leu687=)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42409941 (on Assembly GRCh38)
• Chr15: 42702139 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.2061G>A (p.Leu687=)

HGVS:

• NC_000015.10:g.42409941G>A
• NG_008660.1:g.66839G>A
• NM_000070.3:c.2061G>AMANE SELECT
• NM_024344.2:c.2043G>A
• NM_173087.2:c.1785G>A
• NM_173088.2:c.525G>A
• NM_173089.2:c.66G>A
• NM_173090.2:c.66G>A
• NP_000061.1:p.Leu687=
• NP_077320.1:p.Leu681=
• NP_775110.1:p.Leu595=
• NP_775111.1:p.Leu175=
• NP_775112.1:p.Leu22=
• NP_775113.1:p.Leu22=
• LRG_849t1:c.2061G>A
• LRG_849:g.66839G>A
• LRG_849p1:p.Leu687=
• NC_000015.9:g.42702139G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1566984937

NCBI 1000 Genomes Browser:

rs1566984937

Molecular consequence:

• NM_000070.3:c.2061G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024344.2:c.2043G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173087.2:c.1785G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173088.2:c.525G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173089.2:c.66G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173090.2:c.66G>A - synonymous variant - [Sequence Ontology: SO:0001819]