ClinVar

NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42410446 (on Assembly GRCh38)
• Chr15: 42702644 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)

HGVS:

• NC_000015.10:g.42410446C>T
• NG_008660.1:g.67344C>T
• NM_000070.3:c.2134C>TMANE SELECT
• NM_024344.2:c.2116C>T
• NM_173087.2:c.1858C>T
• NM_173088.2:c.598C>T
• NM_173089.2:c.139C>T
• NM_173090.2:c.139C>T
• NP_000061.1:p.Leu712Phe
• NP_077320.1:p.Leu706Phe
• NP_775110.1:p.Leu620Phe
• NP_775111.1:p.Leu200Phe
• NP_775112.1:p.Leu47Phe
• NP_775113.1:p.Leu47Phe
• LRG_849t1:c.2134C>T
• LRG_849:g.67344C>T
• LRG_849p1:p.Leu712Phe
• NC_000015.9:g.42702644C>T
• NM_000070.2:c.2134C>T

This HGVS expression did not pass validation

Protein change:

L200F

Links:

dbSNP: rs794727318

NCBI 1000 Genomes Browser:

rs794727318

Molecular consequence:

• NM_000070.3:c.2134C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.2116C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.1858C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173088.2:c.598C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173089.2:c.139C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173090.2:c.139C>T - missense variant - [Sequence Ontology: SO:0001583]