ClinVar

NM_172107.4(KCNQ2):c.888C>T (p.Thr296=)

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: 63439637 (on Assembly GRCh38)
• Chr20: 62070990 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.888C>T (p.Thr296=)

Other names:

p.T296T:ACC>ACT

HGVS:

• NC_000020.11:g.63439637G>A
• NG_009004.2:g.38004C>T
• NM_004518.6:c.888C>T
• NM_172106.3:c.888C>T
• NM_172107.4:c.888C>TMANE SELECT
• NM_172108.5:c.888C>T
• NM_172109.3:c.888C>T
• NP_004509.2:p.Thr296=
• NP_742104.1:p.Thr296=
• NP_742105.1:p.Thr296=
• NP_742106.1:p.Thr296=
• NP_742107.1:p.Thr296=
• NC_000020.10:g.62070990G>A
• NM_172107.2:c.888C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs370760854

NCBI 1000 Genomes Browser:

rs370760854

Molecular consequence:

• NM_004518.6:c.888C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172106.3:c.888C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172107.4:c.888C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172108.5:c.888C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172109.3:c.888C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1