ClinVar

NM_153766.3(KCNJ1):c.876G>A (p.Arg292=)

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: 128839368 (on Assembly GRCh38)
• Chr11: 128709263 (on Assembly GRCh37)

Preferred name:

NM_153766.3(KCNJ1):c.876G>A (p.Arg292=)

HGVS:

• NC_000011.10:g.128839368C>T
• NG_009379.1:g.33006G>A
• NM_000220.6:c.933G>A
• NM_153764.3:c.876G>A
• NM_153765.3:c.927G>A
• NM_153766.3:c.876G>AMANE SELECT
• NM_153767.4:c.876G>A
• NP_000211.1:p.Arg311=
• NP_722448.1:p.Arg292=
• NP_722449.3:p.Arg309=
• NP_722450.1:p.Arg292=
• NP_722451.1:p.Arg292=
• NC_000011.9:g.128709263C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000220.6:c.933G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153764.3:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153765.3:c.927G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153766.3:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153767.4:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]