ClinVar

NM_172107.4(KCNQ2):c.748G>T (p.Val250Leu)

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: 63442474 (on Assembly GRCh38)
• Chr20: 62073827 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.748G>T (p.Val250Leu)

HGVS:

• NC_000020.11:g.63442474C>A
• NG_009004.2:g.35167G>T
• NM_004518.6:c.748G>T
• NM_172106.3:c.748G>T
• NM_172107.4:c.748G>TMANE SELECT
• NM_172108.5:c.748G>T
• NM_172109.3:c.748G>T
• NP_004509.2:p.Val250Leu
• NP_742104.1:p.Val250Leu
• NP_742105.1:p.Val250Leu
• NP_742106.1:p.Val250Leu
• NP_742107.1:p.Val250Leu
• NC_000020.10:g.62073827C>A

This HGVS expression did not pass validation

Protein change:

V250L

Links:

dbSNP: rs2081190344

NCBI 1000 Genomes Browser:

rs2081190344

Molecular consequence:

• NM_004518.6:c.748G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.748G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.748G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.748G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172109.3:c.748G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3