ClinVar

NM_000238.4(KCNH2):c.2146-191C>T

Gene:

KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 150950611 (on Assembly GRCh38)
• Chr7: 150647699 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.2146-191C>T

HGVS:

• NC_000007.14:g.150950611G>A
• NG_008916.1:g.32316C>T
• NM_000238.4:c.2146-191C>TMANE SELECT
• NM_001204798.2:c.1126-191C>T
• NM_001406753.1:c.1858-191C>T
• NM_001406755.1:c.1969-191C>T
• NM_001406756.1:c.1858-191C>T
• NM_001406757.1:c.1846-191C>T
• NM_172056.3:c.2146-191C>T
• NM_172057.3:c.1126-191C>T
• LRG_288:g.32316C>T
• NC_000007.13:g.150647699G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs116068966

NCBI 1000 Genomes Browser:

rs116068966

Molecular consequence:

• NM_000238.4:c.2146-191C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204798.2:c.1126-191C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406753.1:c.1858-191C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406755.1:c.1969-191C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406756.1:c.1858-191C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406757.1:c.1846-191C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_172056.3:c.2146-191C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_172057.3:c.1126-191C>T - intron variant - [Sequence Ontology: SO:0001627]