ClinVar

NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)

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: 17387522 (on Assembly GRCh38)
• Chr11: 17409069 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)

HGVS:

• NC_000011.10:g.17387522G>A
• NG_012446.1:g.6138C>T
• NM_000525.4:c.570C>TMANE SELECT
• NM_001166290.2:c.309C>T
• NM_001377296.1:c.309C>T
• NM_001377297.1:c.309C>T
• NP_000516.3:p.Ala190=
• NP_000516.3:p.Ala190=
• NP_001159762.1:p.Ala103=
• NP_001364225.1:p.Ala103=
• NP_001364226.1:p.Ala103=
• NC_000011.9:g.17409069G>A
• NM_000525.3:c.570C>T
• p.Ala190Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs5218

NCBI 1000 Genomes Browser:

rs5218

Molecular consequence:

• NM_000525.4:c.570C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166290.2:c.309C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377296.1:c.309C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377297.1:c.309C>T - synonymous variant - [Sequence Ontology: SO:0001819]