ClinVar

NM_172107.4(KCNQ2):c.388-319T>C

Gene:

KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

• Chr20: 63445683 (on Assembly GRCh38)
• Chr20: 62077036 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.388-319T>C

HGVS:

• NC_000020.11:g.63445683A>G
• NG_009004.2:g.31958T>C
• NM_001382235.1:c.388-319T>C
• NM_004518.6:c.388-319T>C
• NM_172106.3:c.388-319T>C
• NM_172107.4:c.388-319T>CMANE SELECT
• NM_172108.5:c.388-319T>C
• NM_172109.3:c.388-319T>C
• NC_000020.10:g.62077036A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs11475391

NCBI 1000 Genomes Browser:

rs11475391

Molecular consequence:

• NM_001382235.1:c.388-319T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_004518.6:c.388-319T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_172106.3:c.388-319T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_172107.4:c.388-319T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_172108.5:c.388-319T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_172109.3:c.388-319T>C - intron variant - [Sequence Ontology: SO:0001627]