ClinVar

NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)

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: 17387284 (on Assembly GRCh38)
• Chr11: 17408831 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)

HGVS:

• NC_000011.10:g.17387284G>C
• NG_012446.1:g.6376C>G
• NM_000525.4:c.808C>GMANE SELECT
• NM_001166290.2:c.547C>G
• NM_001377296.1:c.547C>G
• NM_001377297.1:c.547C>G
• NP_000516.3:p.Leu270Val
• NP_000516.3:p.Leu270Val
• NP_001159762.1:p.Leu183Val
• NP_001364225.1:p.Leu183Val
• NP_001364226.1:p.Leu183Val
• NC_000011.9:g.17408831G>C
• NM_000525.3:c.808C>G

This HGVS expression did not pass validation

Protein change:

L183V

Links:

dbSNP: rs1800467

NCBI 1000 Genomes Browser:

rs1800467

Molecular consequence:

• NM_000525.4:c.808C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166290.2:c.547C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377296.1:c.547C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377297.1:c.547C>G - missense variant - [Sequence Ontology: SO:0001583]