ClinVar

NM_153766.3(KCNJ1):c.1027G>A (p.Glu343Lys)

Gene:

KCNJ1:potassium inwardly rectifying channel subfamily J member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.3

Genomic location:

• Chr11: 128839217 (on Assembly GRCh38)
• Chr11: 128709112 (on Assembly GRCh37)

Preferred name:

NM_153766.3(KCNJ1):c.1027G>A (p.Glu343Lys)

HGVS:

• NC_000011.10:g.128839217C>T
• NG_009379.1:g.33157G>A
• NM_000220.6:c.1084G>A
• NM_153764.3:c.1027G>A
• NM_153765.3:c.1078G>A
• NM_153766.3:c.1027G>AMANE SELECT
• NM_153767.4:c.1027G>A
• NP_000211.1:p.Glu362Lys
• NP_722448.1:p.Glu343Lys
• NP_722449.3:p.Glu360Lys
• NP_722450.1:p.Glu343Lys
• NP_722451.1:p.Glu343Lys
• NC_000011.9:g.128709112C>T
• NM_000220.4:c.1084G>A

This HGVS expression did not pass validation

Protein change:

E343K

Links:

dbSNP: rs387907436

NCBI 1000 Genomes Browser:

rs387907436

Molecular consequence:

• NM_000220.6:c.1084G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153764.3:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153765.3:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153766.3:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153767.4:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]