ClinVar

NM_005184.4(CALM3):c.249G>A (p.Glu83=)

Gene:

CALM3:calmodulin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

• Chr19: 46608552 (on Assembly GRCh38)
• Chr19: 47111809 (on Assembly GRCh37)

Preferred name:

NM_005184.4(CALM3):c.249G>A (p.Glu83=)

HGVS:

• NC_000019.10:g.46608552G>A
• NG_051331.1:g.12479G>A
• NM_001329921.1:c.141G>A
• NM_001329922.1:c.249G>A
• NM_001329923.1:c.141G>A
• NM_001329924.2:c.141G>A
• NM_001329925.2:c.141G>A
• NM_001329926.2:c.141G>A
• NM_005184.4:c.249G>AMANE SELECT
• NP_001316850.1:p.Glu47=
• NP_001316851.1:p.Glu83=
• NP_001316852.1:p.Glu47=
• NP_001316853.1:p.Glu47=
• NP_001316854.1:p.Glu47=
• NP_001316855.1:p.Glu47=
• NP_005175.2:p.Glu83=
• LRG_1082t1:c.249G>A
• LRG_1082:g.12479G>A
• LRG_1082p1:p.Glu83=
• NC_000019.9:g.47111809G>A
• NM_005184.3:c.249G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs755348000

NCBI 1000 Genomes Browser:

rs755348000

Molecular consequence:

• NM_001329921.1:c.141G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001329922.1:c.249G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001329923.1:c.141G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001329924.2:c.141G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001329925.2:c.141G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001329926.2:c.141G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005184.4:c.249G>A - synonymous variant - [Sequence Ontology: SO:0001819]