ClinVar

NM_000525.4(KCNJ11):c.821A>G (p.Asp274Gly)

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: 17387271 (on Assembly GRCh38)
• Chr11: 17408818 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.821A>G (p.Asp274Gly)

HGVS:

• NC_000011.10:g.17387271T>C
• NG_012446.1:g.6389A>G
• NM_000525.4:c.821A>GMANE SELECT
• NM_001166290.2:c.560A>G
• NM_001377296.1:c.560A>G
• NM_001377297.1:c.560A>G
• NP_000516.3:p.Asp274Gly
• NP_001159762.1:p.Asp187Gly
• NP_001364225.1:p.Asp187Gly
• NP_001364226.1:p.Asp187Gly
• NC_000011.9:g.17408818T>C

This HGVS expression did not pass validation

Protein change:

D187G

Links:

dbSNP: rs794726888

NCBI 1000 Genomes Browser:

rs794726888

Molecular consequence:

• NM_000525.4:c.821A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166290.2:c.560A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377296.1:c.560A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377297.1:c.560A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1