ClinVar

NM_000070.3(CAPN3):c.2088C>A (p.Ser696=)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42409968 (on Assembly GRCh38)
• Chr15: 42702166 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.2088C>A (p.Ser696=)

HGVS:

• NC_000015.10:g.42409968C>A
• NG_008660.1:g.66866C>A
• NM_000070.3:c.2088C>AMANE SELECT
• NM_024344.2:c.2070C>A
• NM_173087.2:c.1812C>A
• NM_173088.2:c.552C>A
• NM_173089.2:c.93C>A
• NM_173090.2:c.93C>A
• NP_000061.1:p.Ser696=
• NP_077320.1:p.Ser690=
• NP_775110.1:p.Ser604=
• NP_775111.1:p.Ser184=
• NP_775112.1:p.Ser31=
• NP_775113.1:p.Ser31=
• LRG_849t1:c.2088C>A
• LRG_849:g.66866C>A
• LRG_849p1:p.Ser696=
• NC_000015.9:g.42702166C>A
• NM_000070.2:c.2088C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs867628179

NCBI 1000 Genomes Browser:

rs867628179

Molecular consequence:

• NM_000070.3:c.2088C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024344.2:c.2070C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173087.2:c.1812C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173088.2:c.552C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173089.2:c.93C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173090.2:c.93C>A - synonymous variant - [Sequence Ontology: SO:0001819]