ClinVar

NM_172107.4(KCNQ2):c.1632-1G>T

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: 63413582 (on Assembly GRCh38)
• Chr20: 62044935 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.1632-1G>T

HGVS:

• NC_000020.11:g.63413582C>A
• NG_009004.2:g.64059G>T
• NM_001382235.1:c.1578-1G>T
• NM_004518.6:c.1548-1G>T
• NM_172106.3:c.1578-1G>T
• NM_172107.4:c.1632-1G>TMANE SELECT
• NM_172108.5:c.1539-1G>T
• NC_000020.10:g.62044935C>A
• NM_172107.2:c.1632-1G>T
• p.Cys544?

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 9425895 to determine the location of this allele on current reference sequence (NM_172107.2:c.1632-1G>T).

Links:

dbSNP: rs118192233

NCBI 1000 Genomes Browser:

rs118192233

Molecular consequence:

• NM_001382235.1:c.1578-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_004518.6:c.1548-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_172106.3:c.1578-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_172107.4:c.1632-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_172108.5:c.1539-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]