ClinVar

NM_000070.3(CAPN3):c.1662C>T (p.Tyr554=)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42402919 (on Assembly GRCh38)
• Chr15: 42695117 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.1662C>T (p.Tyr554=)

HGVS:

• NC_000015.10:g.42402919C>T
• NG_008660.1:g.59817C>T
• NM_000070.3:c.1662C>TMANE SELECT
• NM_024344.2:c.1662C>T
• NM_173087.2:c.1518C>T
• NM_173088.2:c.126C>T
• NP_000061.1:p.Tyr554=
• NP_077320.1:p.Tyr554=
• NP_775110.1:p.Tyr506=
• NP_775111.1:p.Tyr42=
• LRG_849t1:c.1662C>T
• LRG_849:g.59817C>T
• LRG_849p1:p.Tyr554=
• NC_000015.9:g.42695117C>T
• NM_000070.2:c.1662C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs752848213

NCBI 1000 Genomes Browser:

rs752848213

Molecular consequence:

• NM_000070.3:c.1662C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024344.2:c.1662C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173087.2:c.1518C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173088.2:c.126C>T - synonymous variant - [Sequence Ontology: SO:0001819]