ClinVar

NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)

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: 17387211 (on Assembly GRCh38)
• Chr11: 17408758 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)

HGVS:

• NC_000011.10:g.17387211G>A
• NG_012446.1:g.6449C>T
• NM_000525.4:c.881C>TMANE SELECT
• NM_001166290.2:c.620C>T
• NM_001377296.1:c.620C>T
• NM_001377297.1:c.620C>T
• NP_000516.3:p.Thr294Met
• NP_000516.3:p.Thr294Met
• NP_001159762.1:p.Thr207Met
• NP_001364225.1:p.Thr207Met
• NP_001364226.1:p.Thr207Met
• NC_000011.9:g.17408758G>A
• NM_000525.3:c.881C>T

This HGVS expression did not pass validation

Protein change:

T207M

Links:

dbSNP: rs780957825

NCBI 1000 Genomes Browser:

rs780957825

Molecular consequence:

• NM_000525.4:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166290.2:c.620C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377296.1:c.620C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377297.1:c.620C>T - missense variant - [Sequence Ontology: SO:0001583]