ClinVar

NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser)

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: 17387119 (on Assembly GRCh38)
• Chr11: 17408666 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser)

HGVS:

• NC_000011.10:g.17387119G>T
• NG_012446.1:g.6541C>A
• NM_000525.4:c.973C>AMANE SELECT
• NM_001166290.2:c.712C>A
• NM_001377296.1:c.712C>A
• NM_001377297.1:c.712C>A
• NP_000516.3:p.Arg325Ser
• NP_000516.3:p.Arg325Ser
• NP_001159762.1:p.Arg238Ser
• NP_001364225.1:p.Arg238Ser
• NP_001364226.1:p.Arg238Ser
• NC_000011.9:g.17408666G>T
• NM_000525.3:c.973C>A

This HGVS expression did not pass validation

Protein change:

R238S

Links:

dbSNP: rs550315112

NCBI 1000 Genomes Browser:

rs550315112

Molecular consequence:

• NM_000525.4:c.973C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166290.2:c.712C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377296.1:c.712C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377297.1:c.712C>A - missense variant - [Sequence Ontology: SO:0001583]