ClinVar

NM_004070.4(CLCNKA):c.359-117C>A

Genes:

LOC106501712:CLCNKA recombination region [Gene]
CLCNKA:chloride voltage-gated channel Ka [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

• Chr1: 16025991 (on Assembly GRCh38)
• Chr1: 16352486 (on Assembly GRCh37)

Preferred name:

NM_004070.4(CLCNKA):c.359-117C>A

HGVS:

• NC_000001.11:g.16025991C>A
• NG_009359.1:g.9001C>A
• NG_042864.1:g.2163C>A
• NM_001042704.2:c.359-117C>A
• NM_001257139.2:c.230-117C>A
• NM_004070.4:c.359-117C>AMANE SELECT
• NC_000001.10:g.16352486C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs61299694

NCBI 1000 Genomes Browser:

rs61299694

Molecular consequence:

• NM_001042704.2:c.359-117C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257139.2:c.230-117C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_004070.4:c.359-117C>A - intron variant - [Sequence Ontology: SO:0001627]