ClinVar

NM_153766.3(KCNJ1):c.780C>T (p.Phe260=)

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: 128839464 (on Assembly GRCh38)
• Chr11: 128709359 (on Assembly GRCh37)

Preferred name:

NM_153766.3(KCNJ1):c.780C>T (p.Phe260=)

HGVS:

• NC_000011.10:g.128839464G>A
• NG_009379.1:g.32910C>T
• NM_000220.6:c.837C>T
• NM_153764.3:c.780C>T
• NM_153765.3:c.831C>T
• NM_153766.3:c.780C>TMANE SELECT
• NM_153767.4:c.780C>T
• NP_000211.1:p.Phe279=
• NP_722448.1:p.Phe260=
• NP_722449.3:p.Phe277=
• NP_722450.1:p.Phe260=
• NP_722451.1:p.Phe260=
• NC_000011.9:g.128709359G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000220.6:c.837C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153764.3:c.780C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153765.3:c.831C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153766.3:c.780C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153767.4:c.780C>T - synonymous variant - [Sequence Ontology: SO:0001819]