ClinVar

NM_000070.3(CAPN3):c.2099T>C (p.Met700Thr)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 42409979 (on Assembly GRCh38)
• Chr15: 42702177 (on Assembly GRCh37)

Preferred name:

NM_000070.3(CAPN3):c.2099T>C (p.Met700Thr)

HGVS:

• NC_000015.10:g.42409979T>C
• NG_008660.1:g.66877T>C
• NM_000070.3:c.2099T>CMANE SELECT
• NM_024344.2:c.2081T>C
• NM_173087.2:c.1823T>C
• NM_173088.2:c.563T>C
• NM_173089.2:c.104T>C
• NM_173090.2:c.104T>C
• NP_000061.1:p.Met700Thr
• NP_077320.1:p.Met694Thr
• NP_775110.1:p.Met608Thr
• NP_775111.1:p.Met188Thr
• NP_775112.1:p.Met35Thr
• NP_775113.1:p.Met35Thr
• LRG_849t1:c.2099T>C
• LRG_849:g.66877T>C
• LRG_849p1:p.Met700Thr
• NC_000015.9:g.42702177T>C
• NM_000070.2:c.2099T>C

This HGVS expression did not pass validation

Protein change:

M188T

Links:

dbSNP: rs762776236

NCBI 1000 Genomes Browser:

rs762776236

Molecular consequence:

• NM_000070.3:c.2099T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_024344.2:c.2081T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173087.2:c.1823T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173088.2:c.563T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173089.2:c.104T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173090.2:c.104T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1