ClinVar

NM_000238.4(KCNH2):c.1128+1G>A

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: 150957290 (on Assembly GRCh38)
• Chr7: 150654378 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.1128+1G>A

HGVS:

• NC_000007.14:g.150957290C>T
• NG_008916.1:g.25637G>A
• NM_000238.4:c.1128+1G>AMANE SELECT
• NM_001406753.1:c.840+1G>A
• NM_001406755.1:c.951+1G>A
• NM_001406756.1:c.840+1G>A
• NM_001406757.1:c.828+1G>A
• NM_172056.3:c.1128+1G>A
• LRG_288:g.25637G>A
• NC_000007.13:g.150654378C>T
• NC_000007.13:g.150654378C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1405113457

NCBI 1000 Genomes Browser:

rs1405113457

Molecular consequence:

• NM_000238.4:c.1128+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001406753.1:c.840+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001406755.1:c.951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001406756.1:c.840+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001406757.1:c.828+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_172056.3:c.1128+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

1