ClinVar

NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)

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: 17387414 (on Assembly GRCh38)
• Chr11: 17408961 (on Assembly GRCh37)

Preferred name:

NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)

HGVS:

• NC_000011.10:g.17387414G>A
• NG_012446.1:g.6246C>T
• NM_000525.4:c.678C>TMANE SELECT
• NM_001166290.2:c.417C>T
• NM_001377296.1:c.417C>T
• NM_001377297.1:c.417C>T
• NP_000516.3:p.Pro226=
• NP_000516.3:p.Pro226=
• NP_001159762.1:p.Pro139=
• NP_001364225.1:p.Pro139=
• NP_001364226.1:p.Pro139=
• NC_000011.9:g.17408961G>A
• NM_000525.3:c.678C>T
• p.Pro226Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs74162102

NCBI 1000 Genomes Browser:

rs74162102

Molecular consequence:

• NM_000525.4:c.678C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166290.2:c.417C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377296.1:c.417C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377297.1:c.417C>T - synonymous variant - [Sequence Ontology: SO:0001819]