ClinVar

NM_000070.3(CAPN3):c.2091C>T (p.Cys697=)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42409971 (on Assembly GRCh38)
• Chr15: 42702169 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.2091C>T (p.Cys697=)

HGVS:

• NC_000015.10:g.42409971C>T
• NG_008660.1:g.66869C>T
• NM_000070.3:c.2091C>TMANE SELECT
• NM_024344.2:c.2073C>T
• NM_173087.2:c.1815C>T
• NM_173088.2:c.555C>T
• NM_173089.2:c.96C>T
• NM_173090.2:c.96C>T
• NP_000061.1:p.Cys697=
• NP_077320.1:p.Cys691=
• NP_775110.1:p.Cys605=
• NP_775111.1:p.Cys185=
• NP_775112.1:p.Cys32=
• NP_775113.1:p.Cys32=
• LRG_849t1:c.2091C>T
• LRG_849:g.66869C>T
• LRG_849p1:p.Cys697=
• NC_000015.9:g.42702169C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs760776617

NCBI 1000 Genomes Browser:

rs760776617

Molecular consequence:

• NM_000070.3:c.2091C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024344.2:c.2073C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173087.2:c.1815C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173088.2:c.555C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173089.2:c.96C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173090.2:c.96C>T - synonymous variant - [Sequence Ontology: SO:0001819]