ClinVar

NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)

Genes:

ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]
KCNJ11:potassium inwardly rectifying channel subfamily J member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17388025 (on Assembly GRCh38)
• Chr11: 17409572 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)

Other names:

E23K

HGVS:

• NC_000011.10:g.17388025T>C
• NG_012446.1:g.5635A>G
• NM_000525.4:c.67A>GMANE SELECT
• NM_001166290.2:c.-16-179A>G
• NM_001377296.1:c.-24A>G
• NM_001377297.1:c.-16-179A>G
• NP_000516.3:p.Lys23Glu
• NP_000516.3:p.Lys23Glu
• NC_000011.9:g.17409572T>C
• NM_000525.3:c.67A>G

This HGVS expression did not pass validation

Protein change:

K23E; GLU23LYS

Links:

OMIM: 600937.0014; dbSNP: rs5219

NCBI 1000 Genomes Browser:

rs5219

Molecular consequence:

• NM_001377296.1:c.-24A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001166290.2:c.-16-179A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377297.1:c.-16-179A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000525.4:c.67A>G - missense variant - [Sequence Ontology: SO:0001583]