ClinVar

NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 165309366 (on Assembly GRCh38)
• Chr2: 166165876 (on Assembly GRCh37)

Preferred name:

NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser)

HGVS:

• NC_000002.12:g.165309366T>C
• NG_008143.1:g.74965T>C
• NM_001040142.2:c.620T>CMANE SELECT
• NM_001040143.2:c.697+110T>C
• NM_001371246.1:c.697+110T>C
• NM_001371247.1:c.620T>C
• NM_021007.3:c.620T>C
• NP_001035232.1:p.Phe207Ser
• NP_001358176.1:p.Phe207Ser
• NP_066287.2:p.Phe207Ser
• NC_000002.11:g.166165876T>C
• NM_001040142.1:c.620T>C

This HGVS expression did not pass validation

Protein change:

F207S

Links:

dbSNP: rs1064796691

NCBI 1000 Genomes Browser:

rs1064796691

Molecular consequence:

• NM_001040143.2:c.697+110T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371246.1:c.697+110T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040142.2:c.620T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371247.1:c.620T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_021007.3:c.620T>C - missense variant - [Sequence Ontology: SO:0001583]