ClinVar

NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg)

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: 17387626 (on Assembly GRCh38)
• Chr11: 17409173 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg)

HGVS:

• NC_000011.10:g.17387626C>T
• NG_012446.1:g.6034G>A
• NM_000525.4:c.466G>AMANE SELECT
• NM_001166290.2:c.205G>A
• NM_001377296.1:c.205G>A
• NM_001377297.1:c.205G>A
• NP_000516.3:p.Gly156Arg
• NP_000516.3:p.Gly156Arg
• NP_001159762.1:p.Gly69Arg
• NP_001364225.1:p.Gly69Arg
• NP_001364226.1:p.Gly69Arg
• NC_000011.9:g.17409173C>T
• NM_000525.3:c.466G>A

This HGVS expression did not pass validation

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

G156R; GLY156ARG

Links:

OMIM: 600937.0020; dbSNP: rs1404429785

NCBI 1000 Genomes Browser:

rs1404429785

Molecular consequence:

• NM_000525.4:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166290.2:c.205G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377296.1:c.205G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377297.1:c.205G>A - missense variant - [Sequence Ontology: SO:0001583]