ClinVar

NM_000219.6(KCNE1):c.-375A>G

Gene:

KCNE1:potassium voltage-gated channel subfamily E regulatory subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

• Chr21: 34511314 (on Assembly GRCh38)
• Chr21: 35883612 (on Assembly GRCh37)

Preferred name:

NM_000219.6(KCNE1):c.-375A>G

HGVS:

• NC_000021.9:g.34511314T>C
• NG_009091.1:g.5002A>G
• NM_000219.6:c.-375A>GMANE SELECT
• NM_001270402.3:c.-375A>G
• NM_001270403.2:c.-347A>G
• NM_001270404.3:c.-264A>G
• LRG_290:g.5002A>G
• NC_000021.8:g.35883612T>C
• NM_000219.4:c.-375A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs41315349

NCBI 1000 Genomes Browser:

rs41315349

Molecular consequence:

• NM_000219.6:c.-375A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001270402.3:c.-375A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001270403.2:c.-347A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001270404.3:c.-264A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]