ClinVar

NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser)

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: 77637627 (on Assembly GRCh38)
• Chr10: 79397385 (on Assembly GRCh37)

Preferred name:

NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser)

HGVS:

• NC_000010.11:g.77637627C>T
• NG_012270.1:g.5193G>A
• NM_001014797.3:c.16G>A
• NM_001161352.2:c.16G>AMANE SELECT
• NM_001161353.2:c.16G>A
• NM_001271518.2:c.16G>A
• NM_001271519.2:c.16G>A
• NM_001271520.2:c.16G>A
• NM_001271521.2:c.16G>A
• NM_001271522.2:c.16G>A
• NM_001322829.2:c.16G>A
• NM_001322830.2:c.16G>A
• NM_001322832.2:c.16G>A
• NM_001322835.2:c.16G>A
• NM_001322836.2:c.16G>A
• NM_001322837.2:c.16G>A
• NM_001322839.2:c.16G>A
• NM_002247.4:c.16G>A
• NP_001014797.1:p.Gly6Ser
• NP_001154824.1:p.Gly6Ser
• NP_001154825.1:p.Gly6Ser
• NP_001258447.1:p.Gly6Ser
• NP_001258448.1:p.Gly6Ser
• NP_001258449.1:p.Gly6Ser
• NP_001258450.1:p.Gly6Ser
• NP_001258451.1:p.Gly6Ser
• NP_001309758.1:p.Gly6Ser
• NP_001309759.1:p.Gly6Ser
• NP_001309761.1:p.Gly6Ser
• NP_001309764.1:p.Gly6Ser
• NP_001309765.1:p.Gly6Ser
• NP_001309766.1:p.Gly6Ser
• NP_001309768.1:p.Gly6Ser
• NP_002238.2:p.Gly6Ser
• NC_000010.10:g.79397385C>T
• NM_001014797.2:c.16G>A
• NM_002247.3:c.16G>A

This HGVS expression did not pass validation

Protein change:

G6S

Links:

dbSNP: rs914048941

NCBI 1000 Genomes Browser:

rs914048941

Molecular consequence:

• NM_001014797.3:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001161352.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001161353.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271518.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271519.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271520.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271521.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271522.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322829.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322830.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322832.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322835.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322836.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322837.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322839.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002247.4:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1