ClinVar

NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe)

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: 17387595 (on Assembly GRCh38)
• Chr11: 17409142 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe)

HGVS:

• NC_000011.10:g.17387595C>A
• NG_012446.1:g.6065G>T
• NM_000525.4:c.497G>TMANE SELECT
• NM_001166290.2:c.236G>T
• NM_001377296.1:c.236G>T
• NM_001377297.1:c.236G>T
• NP_000516.3:p.Cys166Phe
• NP_000516.3:p.Cys166Phe
• NP_001159762.1:p.Cys79Phe
• NP_001364225.1:p.Cys79Phe
• NP_001364226.1:p.Cys79Phe
• NC_000011.9:g.17409142C>A
• NM_000525.3:c.497G>T

This HGVS expression did not pass validation

Protein change:

C166F; CYS166PHE

Links:

OMIM: 600937.0015; dbSNP: rs80356618

NCBI 1000 Genomes Browser:

rs80356618

Molecular consequence:

• NM_000525.4:c.497G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166290.2:c.236G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377296.1:c.236G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377297.1:c.236G>T - missense variant - [Sequence Ontology: SO:0001583]