ClinVar

NM_000525.4(KCNJ11):c.579C>T (p.His193=)

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: 17387513 (on Assembly GRCh38)
• Chr11: 17409060 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.579C>T (p.His193=)

HGVS:

• NC_000011.10:g.17387513G>A
• NG_012446.1:g.6147C>T
• NM_000525.4:c.579C>TMANE SELECT
• NM_001166290.2:c.318C>T
• NM_001377296.1:c.318C>T
• NM_001377297.1:c.318C>T
• NP_000516.3:p.His193=
• NP_000516.3:p.His193=
• NP_001159762.1:p.His106=
• NP_001364225.1:p.His106=
• NP_001364226.1:p.His106=
• NC_000011.9:g.17409060G>A
• NM_000525.3:c.579C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs762089425

NCBI 1000 Genomes Browser:

rs762089425

Molecular consequence:

• NM_000525.4:c.579C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166290.2:c.318C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377296.1:c.318C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377297.1:c.318C>T - synonymous variant - [Sequence Ontology: SO:0001819]