ClinVar

NM_153766.3(KCNJ1):c.225C>T (p.Phe75=)

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: 128840019 (on Assembly GRCh38)
• Chr11: 128709914 (on Assembly GRCh37)

Preferred name:

NM_153766.3(KCNJ1):c.225C>T (p.Phe75=)

HGVS:

• NC_000011.10:g.128840019G>A
• NG_009379.1:g.32355C>T
• NM_000220.6:c.282C>T
• NM_153764.3:c.225C>T
• NM_153765.3:c.276C>T
• NM_153766.3:c.225C>TMANE SELECT
• NM_153767.4:c.225C>T
• NP_000211.1:p.Phe94=
• NP_722448.1:p.Phe75=
• NP_722449.3:p.Phe92=
• NP_722450.1:p.Phe75=
• NP_722451.1:p.Phe75=
• NC_000011.9:g.128709914G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000220.6:c.282C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153764.3:c.225C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153765.3:c.276C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153766.3:c.225C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153767.4:c.225C>T - synonymous variant - [Sequence Ontology: SO:0001819]