ClinVar

NM_033310.3(KCNK4):c.963G>T (p.Ser321=)

Genes:

KCNK4-CATSPERZ:KCNK4-CATSPERZ readthrough (NMD candidate) [Gene - HGNC]
KCNK4:potassium two pore domain channel subfamily K member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 64299507 (on Assembly GRCh38)
• Chr11: 64066979 (on Assembly GRCh37)

Preferred name:

NM_033310.3(KCNK4):c.963G>T (p.Ser321=)

HGVS:

• NC_000011.10:g.64299507G>T
• NG_122840.1:g.350G>T
• NM_001317090.2:c.963G>T
• NM_033310.3:c.963G>TMANE SELECT
• NM_033311.1:c.963G>T
• NP_001304019.1:p.Ser321=
• NP_201567.1:p.Ser321=
• NP_201568.1:p.Ser321=
• NC_000011.9:g.64066979G>T
• NR_133660.2:n.891G>T
• NR_133661.2:n.955G>T
• NR_133662.1:n.1104G>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_133660.2:n.891G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_133661.2:n.955G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_133662.1:n.1104G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001317090.2:c.963G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033310.3:c.963G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033311.1:c.963G>T - synonymous variant - [Sequence Ontology: SO:0001819]