ClinVar

NM_000890.5(KCNJ5):c.-63G>C

Gene:

KCNJ5:potassium inwardly rectifying channel subfamily J member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.3

Genomic location:

• Chr11: 128891669 (on Assembly GRCh38)
• Chr11: 128761564 (on Assembly GRCh37)

Preferred name:

NM_000890.5(KCNJ5):c.-63G>C

HGVS:

• NC_000011.10:g.128891669G>C
• NG_023406.2:g.5252G>C
• NM_000890.5:c.-63G>CMANE SELECT
• NM_001354169.2:c.-152G>C
• LRG_333t1:c.-63G>C
• LRG_333:g.5252G>C
• NC_000011.9:g.128761564G>C
• NM_000890.3:c.-63G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs557063967

NCBI 1000 Genomes Browser:

rs557063967

Molecular consequence:

• NM_000890.5:c.-63G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354169.2:c.-152G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]