ClinVar

NM_172107.4(KCNQ2):c.1368G>A (p.Gly456=)

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: 63415060 (on Assembly GRCh38)
• Chr20: 62046413 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.1368G>A (p.Gly456=)

HGVS:

• NC_000020.11:g.63415060C>T
• NG_009004.2:g.62581G>A
• NM_001382235.1:c.1314G>A
• NM_004518.6:c.1284G>A
• NM_172106.3:c.1314G>A
• NM_172107.4:c.1368G>AMANE SELECT
• NM_172108.5:c.1278G>A
• NP_001369164.1:p.Gly438=
• NP_004509.2:p.Gly428=
• NP_742104.1:p.Gly438=
• NP_742105.1:p.Gly456=
• NP_742106.1:p.Gly426=
• NC_000020.10:g.62046413C>T
• NM_172107.2:c.1368G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs748785128

NCBI 1000 Genomes Browser:

rs748785128

Molecular consequence:

• NM_001382235.1:c.1314G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004518.6:c.1284G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172106.3:c.1314G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172107.4:c.1368G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172108.5:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]