ClinVar

NM_000070.3(CAPN3):c.1686G>A (p.Glu562=)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42402943 (on Assembly GRCh38)
• Chr15: 42695141 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.1686G>A (p.Glu562=)

HGVS:

• NC_000015.10:g.42402943G>A
• NG_008660.1:g.59841G>A
• NM_000070.3:c.1686G>AMANE SELECT
• NM_024344.2:c.1686G>A
• NM_173087.2:c.1542G>A
• NM_173088.2:c.150G>A
• NP_000061.1:p.Glu562=
• NP_077320.1:p.Glu562=
• NP_775110.1:p.Glu514=
• NP_775111.1:p.Glu50=
• LRG_849t1:c.1686G>A
• LRG_849:g.59841G>A
• LRG_849p1:p.Glu562=
• NC_000015.9:g.42695141G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs569866483

NCBI 1000 Genomes Browser:

rs569866483

Molecular consequence:

• NM_000070.3:c.1686G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024344.2:c.1686G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173087.2:c.1542G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173088.2:c.150G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1