ClinVar

NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)

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: 63406934 (on Assembly GRCh38)
• Chr20: 62038287 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)

Other names:

p.P777S:CCC>TCC

HGVS:

• NC_000020.11:g.63406934G>A
• NG_009004.2:g.70707C>T
• NM_001382235.1:c.2383C>T
• NM_004518.6:c.2245C>T
• NM_172106.3:c.2275C>T
• NM_172107.4:c.2329C>TMANE SELECT
• NM_172108.5:c.2236C>T
• NP_001369164.1:p.Pro795Ser
• NP_004509.2:p.Pro749Ser
• NP_742104.1:p.Pro759Ser
• NP_742105.1:p.Pro777Ser
• NP_742106.1:p.Pro746Ser
• NC_000020.10:g.62038287G>A
• NM_172107.2:c.2329C>T
• NM_172109.1:c.*26811C>T

This HGVS expression did not pass validation

Protein change:

P746S

Links:

dbSNP: rs748400155

NCBI 1000 Genomes Browser:

rs748400155

Molecular consequence:

• NM_001382235.1:c.2383C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004518.6:c.2245C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.2275C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.2329C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.2236C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

4