ClinVar

NM_000070.3(CAPN3):c.1377G>T (p.Gln459His)

Genes:

LOC130056921:ATAC-STARR-seq lymphoblastoid active region 9300 [Gene]
CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42401663 (on Assembly GRCh38)
• Chr15: 42693861 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.1377G>T (p.Gln459His)

HGVS:

• NC_000015.10:g.42401663G>T
• NG_008660.1:g.58561G>T
• NM_000070.3:c.1377G>TMANE SELECT
• NM_024344.2:c.1377G>T
• NM_173087.2:c.1233G>T
• NP_000061.1:p.Gln459His
• NP_077320.1:p.Gln459His
• NP_775110.1:p.Gln411His
• LRG_849t1:c.1377G>T
• LRG_849:g.58561G>T
• LRG_849p1:p.Gln459His
• NC_000015.9:g.42693861G>T
• NM_000070.2:c.1377G>T

This HGVS expression did not pass validation

Protein change:

Q411H

Links:

dbSNP: rs1555422101

NCBI 1000 Genomes Browser:

rs1555422101

Molecular consequence:

• NM_000070.3:c.1377G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.1377G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.1233G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1