ClinVar

NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42402963 (on Assembly GRCh38)
• Chr15: 42695161 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser)

HGVS:

• NC_000015.10:g.42402963T>C
• NG_008660.1:g.59861T>C
• NM_000070.3:c.1706T>CMANE SELECT
• NM_024344.2:c.1706T>C
• NM_173087.2:c.1562T>C
• NM_173088.2:c.170T>C
• NP_000061.1:p.Phe569Ser
• NP_077320.1:p.Phe569Ser
• NP_775110.1:p.Phe521Ser
• NP_775111.1:p.Phe57Ser
• LRG_849t1:c.1706T>C
• LRG_849:g.59861T>C
• LRG_849p1:p.Phe569Ser
• NC_000015.9:g.42695161T>C

This HGVS expression did not pass validation

Protein change:

F521S

Links:

dbSNP: rs886044483

NCBI 1000 Genomes Browser:

rs886044483

Molecular consequence:

• NM_000070.3:c.1706T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.1706T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.1562T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173088.2:c.170T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1