ClinVar

NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg)

Gene:

KCNMA1:potassium calcium-activated channel subfamily M alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.3

Genomic location:

• Chr10: 77110181 (on Assembly GRCh38)
• Chr10: 78869939 (on Assembly GRCh37)

Preferred name:

NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg)

Other names:

G356R

HGVS:

• NC_000010.11:g.77110181C>T
• NG_012270.1:g.532639G>A
• NM_001014797.3:c.1123G>A
• NM_001161352.2:c.1123G>AMANE SELECT
• NM_001161353.2:c.1123G>A
• NM_001271518.2:c.961G>A
• NM_001271519.2:c.1123G>A
• NM_001322829.2:c.1123G>A
• NM_001322830.2:c.1123G>A
• NM_001322832.2:c.1123G>A
• NM_001322835.2:c.1123G>A
• NM_001322836.2:c.1123G>A
• NM_001322837.2:c.1123G>A
• NM_001322838.2:c.583G>A
• NM_002247.4:c.1123G>A
• NP_001014797.1:p.Gly375Arg
• NP_001154824.1:p.Gly375Arg
• NP_001154825.1:p.Gly375Arg
• NP_001258447.1:p.Gly321Arg
• NP_001258448.1:p.Gly375Arg
• NP_001309758.1:p.Gly375Arg
• NP_001309759.1:p.Gly375Arg
• NP_001309761.1:p.Gly375Arg
• NP_001309764.1:p.Gly375Arg
• NP_001309765.1:p.Gly375Arg
• NP_001309766.1:p.Gly375Arg
• NP_001309767.1:p.Gly195Arg
• NP_002238.2:p.Gly375Arg
• NC_000010.10:g.78869939C>T
• NM_002247.3:c.1123G>A
• NM_002247.4:c.1123G>A

This HGVS expression did not pass validation

Protein change:

G195R; GLY356ARG

Links:

OMIM: 600150.0007; OMIM: 600150.0009; dbSNP: rs1554829003

NCBI 1000 Genomes Browser:

rs1554829003

Molecular consequence:

• NM_001014797.3:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001161352.2:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001161353.2:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271518.2:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271519.2:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322829.2:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322830.2:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322832.2:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322835.2:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322836.2:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322837.2:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322838.2:c.583G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002247.4:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1