ClinVar

NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)

Gene:

KCNJ2:potassium inwardly rectifying channel subfamily J member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.3

Genomic location:

• Chr17: 70175283 (on Assembly GRCh38)
• Chr17: 68171424 (on Assembly GRCh37)

Preferred name:

NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)

HGVS:

• NC_000017.11:g.70175283C>T
• NG_008798.1:g.10749C>T
• NM_000891.3:c.244C>TMANE SELECT
• NP_000882.1:p.Arg82Trp
• NP_000882.1:p.Arg82Trp
• LRG_328t1:c.244C>T
• LRG_328:g.10749C>T
• LRG_328p1:p.Arg82Trp
• NC_000017.10:g.68171424C>T
• NM_000891.2:c.244C>T

This HGVS expression did not pass validation

Protein change:

R82W

Links:

dbSNP: rs199473373

NCBI 1000 Genomes Browser:

rs199473373

Molecular consequence:

• NM_000891.3:c.244C>T - missense variant - [Sequence Ontology: SO:0001583]