ClinVar

NM_000525.4(KCNJ11):c.814C>T (p.Pro272Ser)

Gene:

KCNJ11:potassium inwardly rectifying channel subfamily J member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17387278 (on Assembly GRCh38)
• Chr11: 17408825 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.814C>T (p.Pro272Ser)

HGVS:

• NC_000011.10:g.17387278G>A
• NG_012446.1:g.6382C>T
• NG_122013.1:g.845G>A
• NG_122014.1:g.191G>A
• NM_000525.4:c.814C>TMANE SELECT
• NM_001166290.2:c.553C>T
• NM_001377296.1:c.553C>T
• NM_001377297.1:c.553C>T
• NP_000516.3:p.Pro272Ser
• NP_001159762.1:p.Pro185Ser
• NP_001364225.1:p.Pro185Ser
• NP_001364226.1:p.Pro185Ser
• NC_000011.9:g.17408825G>A
• NM_000525.3:c.814C>T

This HGVS expression did not pass validation

Protein change:

P185S

Molecular consequence:

• NM_000525.4:c.814C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166290.2:c.553C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377296.1:c.553C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377297.1:c.553C>T - missense variant - [Sequence Ontology: SO:0001583]