ClinVar

NM_172107.4(KCNQ2):c.375C>T (p.Ala125=)

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: 63446759 (on Assembly GRCh38)
• Chr20: 62078112 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.375C>T (p.Ala125=)

HGVS:

• NC_000020.11:g.63446759G>A
• NG_009004.2:g.30882C>T
• NM_004518.6:c.375C>T
• NM_172106.3:c.375C>T
• NM_172107.4:c.375C>TMANE SELECT
• NM_172108.5:c.375C>T
• NM_172109.3:c.375C>T
• NP_004509.2:p.Ala125=
• NP_742104.1:p.Ala125=
• NP_742105.1:p.Ala125=
• NP_742106.1:p.Ala125=
• NP_742107.1:p.Ala125=
• NC_000020.10:g.62078112G>A
• NM_172107.3:c.375C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1568944870

NCBI 1000 Genomes Browser:

rs1568944870

Molecular consequence:

• NM_004518.6:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172106.3:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172107.4:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172108.5:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172109.3:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]