ClinVar

NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys)

Gene:

KCNJ1:potassium inwardly rectifying channel subfamily J member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.3

Genomic location:

• Chr11: 128839739 (on Assembly GRCh38)
• Chr11: 128709634 (on Assembly GRCh37)

Preferred name:

NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys)

HGVS:

• NC_000011.10:g.128839739G>A
• NG_009379.1:g.32635C>T
• NM_000220.6:c.562C>T
• NM_153764.3:c.505C>T
• NM_153765.3:c.556C>T
• NM_153766.3:c.505C>TMANE SELECT
• NM_153767.4:c.505C>T
• NP_000211.1:p.Arg188Cys
• NP_722448.1:p.Arg169Cys
• NP_722449.3:p.Arg186Cys
• NP_722450.1:p.Arg169Cys
• NP_722451.1:p.Arg169Cys
• NC_000011.9:g.128709634G>A
• NM_000220.2:c.562C>T
• NM_000220.4:c.562C>T

This HGVS expression did not pass validation

Protein change:

R169C

Links:

dbSNP: rs138120505

NCBI 1000 Genomes Browser:

rs138120505

Molecular consequence:

• NM_000220.6:c.562C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153764.3:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153765.3:c.556C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153766.3:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153767.4:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]