ClinVar

NM_172107.4(KCNQ2):c.2234C>T (p.Pro745Leu)

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: 63407029 (on Assembly GRCh38)
• Chr20: 62038382 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.2234C>T (p.Pro745Leu)

Other names:

KCNQ2

HGVS:

• NC_000020.11:g.63407029G>A
• NG_009004.2:g.70612C>T
• NM_004518.6:c.2150C>T
• NM_172106.3:c.2180C>T
• NM_172107.4:c.2234C>TMANE SELECT
• NM_172108.5:c.2141C>T
• NP_004509.2:p.Pro717Leu
• NP_742104.1:p.Pro727Leu
• NP_742105.1:p.Pro745Leu
• NP_742106.1:p.Pro714Leu
• NC_000020.10:g.62038382G>A
• NM_172107.2:c.2234C>T
• NM_172107.3:c.2234C>T

This HGVS expression did not pass validation

Protein change:

P714L

Links:

dbSNP: rs1057518569

NCBI 1000 Genomes Browser:

rs1057518569

Molecular consequence:

• NM_004518.6:c.2150C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.2180C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.2234C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.2141C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1