ClinVar

NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu)

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: 17387338 (on Assembly GRCh38)
• Chr11: 17408885 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu)

HGVS:

• NC_000011.10:g.17387338C>A
• NG_012446.1:g.6322G>T
• NM_000525.4:c.754G>TMANE SELECT
• NM_001166290.2:c.493G>T
• NM_001377296.1:c.493G>T
• NM_001377297.1:c.493G>T
• NP_000516.3:p.Val252Leu
• NP_001159762.1:p.Val165Leu
• NP_001364225.1:p.Val165Leu
• NP_001364226.1:p.Val165Leu
• NC_000011.9:g.17408885C>A

This HGVS expression did not pass validation

Protein change:

V165L

Links:

dbSNP: rs2133379609

NCBI 1000 Genomes Browser:

rs2133379609

Molecular consequence:

• NM_000525.4:c.754G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166290.2:c.493G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377296.1:c.493G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377297.1:c.493G>T - missense variant - [Sequence Ontology: SO:0001583]