ClinVar

NM_000070.3(CAPN3):c.717del (p.Phe239fs)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42389007 (on Assembly GRCh38)
• Chr15: 42681205 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.717del (p.Phe239fs)

HGVS:

• NC_000015.10:g.42389012del
• NC_000015.9:g.42681205del
• NG_008660.1:g.45910del
• NM_000070.3:c.717delMANE SELECT
• NM_024344.2:c.717del
• NM_173087.2:c.717del
• NP_000061.1:p.Phe239fs
• NP_077320.1:p.Phe239fs
• NP_775110.1:p.Phe239fs
• LRG_849t1:c.717del
• LRG_849:g.45910del
• LRG_849p1:p.Phe239fs
• NC_000015.9:g.42681205del
• NC_000015.9:g.42681205delT
• NC_000015.9:g.42681210del
• NM_000070.2:c.717delT
• NM_000070.3:c.717delTMANE SELECT

This HGVS expression did not pass validation

Protein change:

F239fs

Links:

dbSNP: rs776059672

NCBI 1000 Genomes Browser:

rs776059672

Molecular consequence:

• NM_000070.3:c.717del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_024344.2:c.717del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_173087.2:c.717del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

2