ClinVar

NM_000525.4(KCNJ11):c.408C>T (p.Arg136=)

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: 17387684 (on Assembly GRCh38)
• Chr11: 17409231 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.408C>T (p.Arg136=)

HGVS:

• NC_000011.10:g.17387684G>A
• NG_012446.1:g.5976C>T
• NG_122014.1:g.597G>A
• NM_000525.3:c.408C>T
• NM_000525.4:c.408C>TMANE SELECT
• NM_001166290.2:c.147C>T
• NM_001377296.1:c.147C>T
• NM_001377297.1:c.147C>T
• NP_000516.3:p.Arg136=
• NP_001159762.1:p.Arg49=
• NP_001364225.1:p.Arg49=
• NP_001364226.1:p.Arg49=
• NC_000011.9:g.17409231G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000525.4:c.408C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166290.2:c.147C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377296.1:c.147C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377297.1:c.147C>T - synonymous variant - [Sequence Ontology: SO:0001819]