ClinVar

NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)

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: 17387992 (on Assembly GRCh38)
• Chr11: 17409539 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)

HGVS:

• NC_000011.10:g.17387992G>A
• NG_012446.1:g.5668C>T
• NM_000525.4:c.100C>TMANE SELECT
• NM_001166290.2:c.-16-146C>T
• NM_001377296.1:c.-17+26C>T
• NM_001377297.1:c.-16-146C>T
• NP_000516.3:p.Arg34Cys
• NP_000516.3:p.Arg34Cys
• NC_000011.9:g.17409539G>A
• NM_000525.3:c.100C>T

This HGVS expression did not pass validation

Protein change:

R34C

Links:

dbSNP: rs954727530

NCBI 1000 Genomes Browser:

rs954727530

Molecular consequence:

• NM_001166290.2:c.-16-146C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377296.1:c.-17+26C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377297.1:c.-16-146C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000525.4:c.100C>T - missense variant - [Sequence Ontology: SO:0001583]