ClinVar

NM_000070.3(CAPN3):c.305C>T (p.Pro102Leu)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42360110 (on Assembly GRCh38)
• Chr15: 42652308 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.305C>T (p.Pro102Leu)

HGVS:

• NC_000015.10:g.42360110C>T
• NG_008660.1:g.17008C>T
• NM_000070.3:c.305C>TMANE SELECT
• NM_024344.2:c.305C>T
• NM_173087.2:c.305C>T
• NP_000061.1:p.Pro102Leu
• NP_077320.1:p.Pro102Leu
• NP_775110.1:p.Pro102Leu
• LRG_849t1:c.305C>T
• LRG_849:g.17008C>T
• LRG_849p1:p.Pro102Leu
• NC_000015.9:g.42652308C>T
• NM_000070.2:c.305C>T

This HGVS expression did not pass validation

Protein change:

P102L

Links:

dbSNP: rs886042315

NCBI 1000 Genomes Browser:

rs886042315

Molecular consequence:

• NM_000070.3:c.305C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.305C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.305C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1