ClinVar

NM_000525.4(KCNJ11):c.47G>A (p.Arg16His)

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: 17388045 (on Assembly GRCh38)
• Chr11: 17409592 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.47G>A (p.Arg16His)

HGVS:

• NC_000011.10:g.17388045C>T
• NG_012446.1:g.5615G>A
• NM_000525.4:c.47G>AMANE SELECT
• NM_001166290.2:c.-16-199G>A
• NM_001377296.1:c.-44G>A
• NM_001377297.1:c.-16-199G>A
• NP_000516.3:p.Arg16His
• NP_000516.3:p.Arg16His
• NC_000011.9:g.17409592C>T
• NC_000011.9:g.17409592C>T
• NM_000525.3:c.47G>A

This HGVS expression did not pass validation

Protein change:

R16H

Links:

dbSNP: rs770609243

NCBI 1000 Genomes Browser:

rs770609243

Molecular consequence:

• NM_001377296.1:c.-44G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001166290.2:c.-16-199G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377297.1:c.-16-199G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000525.4:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]