ClinVar

NM_000525.4(KCNJ11):c.186G>A (p.Thr62=)

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: 17387906 (on Assembly GRCh38)
• Chr11: 17409453 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.186G>A (p.Thr62=)

HGVS:

• NC_000011.10:g.17387906C>T
• NG_012446.1:g.5754G>A
• NM_000525.4:c.186G>AMANE SELECT
• NM_001166290.2:c.-16-60G>A
• NM_001377296.1:c.-16-60G>A
• NM_001377297.1:c.-16-60G>A
• NP_000516.3:p.Thr62=
• NC_000011.9:g.17409453C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs748877741

NCBI 1000 Genomes Browser:

rs748877741

Molecular consequence:

• NM_001166290.2:c.-16-60G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377296.1:c.-16-60G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377297.1:c.-16-60G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000525.4:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]