ClinVar

NM_001040142.2(SCN2A):c.618G>A (p.Glu206=)

Gene:

SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 165309364 (on Assembly GRCh38)
• Chr2: 166165874 (on Assembly GRCh37)

Preferred name:

NM_001040142.2(SCN2A):c.618G>A (p.Glu206=)

HGVS:

• NC_000002.12:g.165309364G>A
• NG_008143.1:g.74963G>A
• NM_001040142.2:c.618G>AMANE SELECT
• NM_001040143.2:c.697+108G>A
• NM_001371246.1:c.697+108G>A
• NM_001371247.1:c.618G>A
• NM_021007.3:c.618G>A
• NP_001035232.1:p.Glu206=
• NP_001358176.1:p.Glu206=
• NP_066287.2:p.Glu206=
• NC_000002.11:g.166165874G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2228983

NCBI 1000 Genomes Browser:

rs2228983

Molecular consequence:

• NM_001040143.2:c.697+108G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371246.1:c.697+108G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040142.2:c.618G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371247.1:c.618G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021007.3:c.618G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1