ClinVar

NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)

Gene:

KCNJ11:potassium inwardly rectifying channel subfamily J member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17386938 (on Assembly GRCh38)
• Chr11: 17408485 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)

HGVS:

• NC_000011.10:g.17386938G>C
• NG_012446.1:g.6722C>G
• NM_000525.4:c.1154C>GMANE SELECT
• NM_001166290.2:c.893C>G
• NM_001377296.1:c.893C>G
• NM_001377297.1:c.893C>G
• NP_000516.3:p.Ser385Cys
• NP_000516.3:p.Ser385Cys
• NP_001159762.1:p.Ser298Cys
• NP_001364225.1:p.Ser298Cys
• NP_001364226.1:p.Ser298Cys
• NC_000011.9:g.17408485G>C
• NM_000525.3:c.1154C>G

This HGVS expression did not pass validation

Protein change:

S298C

Links:

dbSNP: rs41282930

NCBI 1000 Genomes Browser:

rs41282930

Molecular consequence:

• NM_000525.4:c.1154C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166290.2:c.893C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377296.1:c.893C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377297.1:c.893C>G - missense variant - [Sequence Ontology: SO:0001583]