ClinVar

NM_000070.3(CAPN3):c.788G>A (p.Gly263Asp)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42389083 (on Assembly GRCh38)
• Chr15: 42681281 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.788G>A (p.Gly263Asp)

HGVS:

• NC_000015.10:g.42389083G>A
• NG_008660.1:g.45981G>A
• NM_000070.3:c.788G>AMANE SELECT
• NM_024344.2:c.788G>A
• NM_173087.2:c.788G>A
• NP_000061.1:p.Gly263Asp
• NP_077320.1:p.Gly263Asp
• NP_775110.1:p.Gly263Asp
• LRG_849t1:c.788G>A
• LRG_849:g.45981G>A
• LRG_849p1:p.Gly263Asp
• NC_000015.9:g.42681281G>A

This HGVS expression did not pass validation

Protein change:

G263D

Links:

dbSNP: rs886042588

NCBI 1000 Genomes Browser:

rs886042588

Molecular consequence:

• NM_000070.3:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1