ClinVar

NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu)

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: 17387331 (on Assembly GRCh38)
• Chr11: 17408878 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu)

HGVS:

• NC_000011.10:g.17387331G>A
• NG_012446.1:g.6329C>T
• NM_000525.4:c.761C>TMANE SELECT
• NM_001166290.2:c.500C>T
• NM_001377296.1:c.500C>T
• NM_001377297.1:c.500C>T
• NP_000516.3:p.Pro254Leu
• NP_001159762.1:p.Pro167Leu
• NP_001364225.1:p.Pro167Leu
• NP_001364226.1:p.Pro167Leu
• NC_000011.9:g.17408878G>A
• NC_000011.9:g.17408878G>A

This HGVS expression did not pass validation

Protein change:

P167L; PRO254LEU

Links:

OMIM: 600937.0011; dbSNP: rs104894237

NCBI 1000 Genomes Browser:

rs104894237

Molecular consequence:

• NM_000525.4:c.761C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166290.2:c.500C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377296.1:c.500C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377297.1:c.500C>T - missense variant - [Sequence Ontology: SO:0001583]